GITNUXREPORT 2026

Genome Statistics

The human genome contains billions of base pairs, thousands of genes, and vast repetitive regions.

Rajesh Patel

Team Lead & Senior Researcher with over 15 years of experience in market research and data analytics.

First published: Feb 13, 2026

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Statistic 1

Genome-wide association studies link 7,000 SNPs to disease risk

Statistic 2

Pharmacogenomics identifies 300 actionable variants for 100+ drugs

Statistic 3

Prenatal whole-genome sequencing detects 13% more pathogenic variants than microarrays

Statistic 4

Cancer precision medicine matches therapies to mutations in 30% of advanced cases

Statistic 5

Polygenic risk scores predict 10-20% lifetime risk for coronary artery disease

Statistic 6

CRISPR-Cas9 gene editing corrected 80% of sickle cell mutations in stem cells

Statistic 7

Non-invasive prenatal testing (NIPT) screens 99.9% of trisomy 21 cases from cell-free DNA

Statistic 8

Carrier screening panels detect 85% of cystic fibrosis carriers in Caucasians

Statistic 9

Whole genome sequencing reduces neonatal ICU diagnosis time from months to days in 40% cases

Statistic 10

Forensic DNA phenotyping predicts eye color with 90% accuracy from SNPs

Statistic 11

Genomic selection in cattle breeding increased milk yield by 100 kg/year

Statistic 12

Bt corn genome editing reduced pesticide use by 37% globally

Statistic 13

Human genome editing trials for HIV cure edited CCR5 in 12 patients safely

Statistic 14

Ancestry DNA tests trace 80% of Ashkenazi Jewish ancestry accurately

Statistic 15

Metagenomics sequenced 200,000 microbial genomes from human gut microbiome

Statistic 16

AlphaFold predicted structures for 200 million protein sequences from genomes

Statistic 17

Liquid biopsy ctDNA detects 87% of stage I cancers via genome sequencing

Statistic 18

Gene drive mosquitoes edited genomes reduced malaria vectors by 99% in trials

Statistic 19

Direct-to-consumer genetic testing reached 30 million users by 2023

Statistic 20

Genome editing in rice increased yield by 20% via promoter swaps

Statistic 21

The human genome contains an estimated 20,000-25,000 protein-coding genes

Statistic 22

Non-coding RNAs number over 20,000 in the human genome including lncRNAs and miRNAs

Statistic 23

Pseudogenes in humans total around 14,000, mostly processed pseudogenes

Statistic 24

The average human gene spans 27 kb with 9 exons on average

Statistic 25

Histone genes in humans number about 100, clustered on chromosomes 1 and 6

Statistic 26

Olfactory receptor genes total 391 functional in humans, part of 800+ gene family

Statistic 27

MHC genes on chromosome 6 number over 200, highly polymorphic

Statistic 28

HOX gene clusters in humans consist of 39 genes across 4 clusters

Statistic 29

Immunoglobulin genes on chromosome 14 total hundreds in variable/diversity/joining segments

Statistic 30

T-cell receptor genes number over 100 loci across multiple chromosomes

Statistic 31

G-protein coupled receptors (GPCRs) genes total 816 in humans

Statistic 32

Kinase genes number approximately 518 in the human kinome

Statistic 33

Zinc finger genes exceed 700 in humans, largest transcription factor family

Statistic 34

Cytochrome P450 genes total 57 functional in humans

Statistic 35

Collagen genes number 28 in humans

Statistic 36

The fruit fly genome encodes about 14,000 protein-coding genes

Statistic 37

Arabidopsis has 27,655 protein-coding genes

Statistic 38

Yeast S. cerevisiae has 6,300 genes, 5,500 protein-coding

Statistic 39

E. coli has 4,300 genes, mostly protein-coding

Statistic 40

Mouse genome has 22,000 protein-coding genes

Statistic 41

The rice genome encodes 41,000 genes

Statistic 42

Wheat genome has ~110,000 genes due to polyploidy

Statistic 43

Chimpanzee genome has ~19,000 protein-coding genes

Statistic 44

C. elegans has 20,400 protein-coding genes

Statistic 45

The common single nucleotide polymorphisms (SNPs) number over 10 million in the human genome with minor allele frequency >1%

Statistic 46

Structural variants (SVs) affect 20-50 kb per individual, totaling 1-2% of genome difference

Statistic 47

Copy number variations (CNVs) cover 12% of the human genome across populations

Statistic 48

The nucleotide diversity π in humans is 0.001 between any two individuals

Statistic 49

African populations have 60% higher SNP density than non-Africans

Statistic 50

HLA region shows highest polymorphism with over 20,000 alleles cataloged

Statistic 51

Mobile element insertions vary by 1,500 events per individual genome

Statistic 52

Inversions larger than 1 kb occur at 12,000-15,000 per diploid genome

Statistic 53

Microsatellite repeat variations contribute to 3% of human genetic diversity

Statistic 54

Somatic mutations in cancer genomes average 100-1,000 per tumor exome

Statistic 55

The chimpanzee-human divergence is 1.23% at aligned sites

Statistic 56

Archaic admixture from Neanderthals contributes 1-2% of non-African genomes

Statistic 57

Denisovan DNA admixture up to 5% in some Oceanian populations

Statistic 58

Rare variants (<0.1% MAF) constitute 86% of SNPs in human populations

Statistic 59

gnomAD database catalogs 676,000 exomes with 3.1 million loss-of-function variants

Statistic 60

Population bottleneck reduced human diversity to 10,000 individuals ~70,000 years ago

Statistic 61

Fst genetic differentiation between continents averages 0.11

Statistic 62

GWAS identified 12,000 trait-associated loci across 3,300 traits

Statistic 63

Polygenic risk scores explain up to 20% heritability for height in Europeans

Statistic 64

CRISPR off-target mutations occur at rates below 0.1% in edited genomes

Statistic 65

The human genome contains approximately 3.2 billion base pairs of DNA sequence

Statistic 66

The haploid human genome size is measured at 3,054,815,472 base pairs in the GRCh38.p14 assembly

Statistic 67

Eukaryotic genomes like humans have linear chromosomes, with 22 autosomes and 2 sex chromosomes totaling 24 unique chromosomes

Statistic 68

The total length of the human genome is about 6.4 billion base pairs when considering the diploid state

Statistic 69

Mitochondrial DNA in humans contributes an additional 16,569 base pairs to the total genomic content

Statistic 70

The largest human chromosome, chromosome 1, spans 249 million base pairs

Statistic 71

Chromosome Y in humans is the smallest, with about 59 million base pairs

Statistic 72

Introns make up roughly 25% of the human genome, while exons constitute about 1.5%

Statistic 73

Repetitive DNA elements occupy over 50% of the human genome, including LINEs and SINEs

Statistic 74

The human genome has approximately 1.5% of its sequence coding for proteins

Statistic 75

Centromeric regions in the human genome total around 4-5% of the chromosomal length

Statistic 76

Telomeres in human chromosomes consist of TTAGGG repeats averaging 5-15 kb in length

Statistic 77

Heterochromatin comprises about 30% of the human genome, often gene-poor

Statistic 78

The effective genome size after masking repeats is about 2.5 billion bp for mapping purposes

Statistic 79

Human genome GC content averages 40.9% across all chromosomes

Statistic 80

The genome of the fruit fly Drosophila melanogaster is 180 million base pairs

Statistic 81

Arabidopsis thaliana genome size is 135 million base pairs with 5 chromosomes

Statistic 82

Baker's yeast Saccharomyces cerevisiae genome is 12 million base pairs across 16 chromosomes

Statistic 83

Escherichia coli K-12 genome is 4.6 million base pairs, circular chromosome

Statistic 84

The mouse genome Mus musculus is 2.8 billion base pairs, highly similar to human

Statistic 85

Rice Oryza sativa genome is 430 million base pairs with over 400 Mb euchromatin

Statistic 86

The wheat genome Triticum aestivum is approximately 17 billion base pairs, hexaploid

Statistic 87

Corn Zea mays genome size is 2.3 billion base pairs

Statistic 88

The chimpanzee genome Pan troglodytes is 3.0 billion base pairs, 98.8% identical to human

Statistic 89

Neanderthal genome draft size matches modern humans at ~3.1 billion bp

Statistic 90

The bacterial genome of Mycobacterium tuberculosis is 4.4 million base pairs

Statistic 91

Caenorhabditis elegans genome is 100 million base pairs with 6 chromosomes

Statistic 92

The pufferfish Takifugu rubripes genome is 400 million base pairs, compact vertebrate genome

Statistic 93

Plasmodium falciparum malaria parasite genome is 23 million base pairs

Statistic 94

Human Genome Project officially completed in 2003 with 99% coverage at 1x depth

Statistic 95

The first human genome sequence cost $2.7 billion and took 13 years

Statistic 96

Illumina HiSeq platform enabled 100x coverage human genomes for under $1,000 by 2015

Statistic 97

The 1000 Genomes Project sequenced 2,504 individuals from 26 populations at 6x coverage

Statistic 98

UK Biobank sequenced exomes of 500,000 participants at 30x depth

Statistic 99

The Cancer Genome Atlas (TCGA) generated 2.5 petabytes of genomic data from 11,000 tumors

Statistic 100

Earth BioGenome Project aims to sequence all 1.8 million eukaryotic species by 2028

Statistic 101

The first bacterial genome, Haemophilus influenzae, sequenced in 1995 at 1.8 Mb

Statistic 102

Human ENCODE project mapped functional elements across 30% of the genome using multiple assays

Statistic 103

The Neanderthal genome sequenced from three individuals at 1.3x average coverage in 2010

Statistic 104

PacBio long-read sequencing achieved N50 contig size of 13 Mb for human genome CHM13 assembly

Statistic 105

Oxford Nanopore MinION sequenced entire human genome in real-time at 30x coverage

Statistic 106

The Telomere-to-Telomere (T2T) consortium completed the first fully gap-free human genome in 2022

Statistic 107

All of Us Research Program plans to sequence 1 million diverse U.S. genomes

Statistic 108

BGI sequenced the first individual human genome (YH) in 2008 using SOAP assembler

Statistic 109

The rice genome fully sequenced in 2005 by Beijing Institute of Genomics at 95% coverage

Statistic 110

Mouse genome sequenced by Celera and public consortium in 2002 at 7x coverage

Statistic 111

The human reference GRCh38 released in 2013 incorporating 75 new assemblies

Statistic 112

GTEx project sequenced RNA from 54 tissues across 948 donors

1/112

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Nestled within each of your cells is an extraordinary library containing over 3.2 billion letters of genetic code, a staggering biological blueprint that we are only just beginning to fully read and understand.

Key Takeaways

The human genome contains approximately 3.2 billion base pairs of DNA sequence
The haploid human genome size is measured at 3,054,815,472 base pairs in the GRCh38.p14 assembly
Eukaryotic genomes like humans have linear chromosomes, with 22 autosomes and 2 sex chromosomes totaling 24 unique chromosomes
The human genome contains an estimated 20,000-25,000 protein-coding genes
Non-coding RNAs number over 20,000 in the human genome including lncRNAs and miRNAs
Pseudogenes in humans total around 14,000, mostly processed pseudogenes
Human Genome Project officially completed in 2003 with 99% coverage at 1x depth
The first human genome sequence cost $2.7 billion and took 13 years
Illumina HiSeq platform enabled 100x coverage human genomes for under $1,000 by 2015
The common single nucleotide polymorphisms (SNPs) number over 10 million in the human genome with minor allele frequency >1%
Structural variants (SVs) affect 20-50 kb per individual, totaling 1-2% of genome difference
Copy number variations (CNVs) cover 12% of the human genome across populations
Genome-wide association studies link 7,000 SNPs to disease risk
Pharmacogenomics identifies 300 actionable variants for 100+ drugs
Prenatal whole-genome sequencing detects 13% more pathogenic variants than microarrays

The human genome contains billions of base pairs, thousands of genes, and vast repetitive regions.

Applications and Impacts

Genome-wide association studies link 7,000 SNPs to disease risk
Pharmacogenomics identifies 300 actionable variants for 100+ drugs
Prenatal whole-genome sequencing detects 13% more pathogenic variants than microarrays
Cancer precision medicine matches therapies to mutations in 30% of advanced cases
Polygenic risk scores predict 10-20% lifetime risk for coronary artery disease
CRISPR-Cas9 gene editing corrected 80% of sickle cell mutations in stem cells
Non-invasive prenatal testing (NIPT) screens 99.9% of trisomy 21 cases from cell-free DNA
Carrier screening panels detect 85% of cystic fibrosis carriers in Caucasians
Whole genome sequencing reduces neonatal ICU diagnosis time from months to days in 40% cases
Forensic DNA phenotyping predicts eye color with 90% accuracy from SNPs
Genomic selection in cattle breeding increased milk yield by 100 kg/year
Bt corn genome editing reduced pesticide use by 37% globally
Human genome editing trials for HIV cure edited CCR5 in 12 patients safely
Ancestry DNA tests trace 80% of Ashkenazi Jewish ancestry accurately
Metagenomics sequenced 200,000 microbial genomes from human gut microbiome
AlphaFold predicted structures for 200 million protein sequences from genomes
Liquid biopsy ctDNA detects 87% of stage I cancers via genome sequencing
Gene drive mosquitoes edited genomes reduced malaria vectors by 99% in trials
Direct-to-consumer genetic testing reached 30 million users by 2023
Genome editing in rice increased yield by 20% via promoter swaps

Applications and Impacts Interpretation

From medicine to agriculture, our growing mastery over the genetic code is rapidly transforming prediction, treatment, and even the fundamental editing of life itself, one precise and powerful data point at a time.

Gene Content

The human genome contains an estimated 20,000-25,000 protein-coding genes
Non-coding RNAs number over 20,000 in the human genome including lncRNAs and miRNAs
Pseudogenes in humans total around 14,000, mostly processed pseudogenes
The average human gene spans 27 kb with 9 exons on average
Histone genes in humans number about 100, clustered on chromosomes 1 and 6
Olfactory receptor genes total 391 functional in humans, part of 800+ gene family
MHC genes on chromosome 6 number over 200, highly polymorphic
HOX gene clusters in humans consist of 39 genes across 4 clusters
Immunoglobulin genes on chromosome 14 total hundreds in variable/diversity/joining segments
T-cell receptor genes number over 100 loci across multiple chromosomes
G-protein coupled receptors (GPCRs) genes total 816 in humans
Kinase genes number approximately 518 in the human kinome
Zinc finger genes exceed 700 in humans, largest transcription factor family
Cytochrome P450 genes total 57 functional in humans
Collagen genes number 28 in humans
The fruit fly genome encodes about 14,000 protein-coding genes
Arabidopsis has 27,655 protein-coding genes
Yeast S. cerevisiae has 6,300 genes, 5,500 protein-coding
E. coli has 4,300 genes, mostly protein-coding
Mouse genome has 22,000 protein-coding genes
The rice genome encodes 41,000 genes
Wheat genome has ~110,000 genes due to polyploidy
Chimpanzee genome has ~19,000 protein-coding genes
C. elegans has 20,400 protein-coding genes

Gene Content Interpretation

Even with our impressive 20,000-25,000 protein-coding genes, we're genetically outnumbered by rice and dramatically outmaneuvered by our own non-coding elements, suggesting the real blueprint of a human is less a tidy parts list and more a riotous, improvisational masterpiece written in molecular margins.

Genetic Variation

The common single nucleotide polymorphisms (SNPs) number over 10 million in the human genome with minor allele frequency >1%
Structural variants (SVs) affect 20-50 kb per individual, totaling 1-2% of genome difference
Copy number variations (CNVs) cover 12% of the human genome across populations
The nucleotide diversity π in humans is 0.001 between any two individuals
African populations have 60% higher SNP density than non-Africans
HLA region shows highest polymorphism with over 20,000 alleles cataloged
Mobile element insertions vary by 1,500 events per individual genome
Inversions larger than 1 kb occur at 12,000-15,000 per diploid genome
Microsatellite repeat variations contribute to 3% of human genetic diversity
Somatic mutations in cancer genomes average 100-1,000 per tumor exome
The chimpanzee-human divergence is 1.23% at aligned sites
Archaic admixture from Neanderthals contributes 1-2% of non-African genomes
Denisovan DNA admixture up to 5% in some Oceanian populations
Rare variants (<0.1% MAF) constitute 86% of SNPs in human populations
gnomAD database catalogs 676,000 exomes with 3.1 million loss-of-function variants
Population bottleneck reduced human diversity to 10,000 individuals ~70,000 years ago
Fst genetic differentiation between continents averages 0.11
GWAS identified 12,000 trait-associated loci across 3,300 traits
Polygenic risk scores explain up to 20% heritability for height in Europeans
CRISPR off-target mutations occur at rates below 0.1% in edited genomes

Genetic Variation Interpretation

While boasting ten million common SNPs and structural quirks spanning a fifth of its code, the human genome reveals us to be a remarkably uniform species, with any two individuals differing by just a tenth of a percent, yet this thin veneer of variation paints the rich portrait of our history, disease, and diversity.

Genome Size and Structure

The human genome contains approximately 3.2 billion base pairs of DNA sequence
The haploid human genome size is measured at 3,054,815,472 base pairs in the GRCh38.p14 assembly
Eukaryotic genomes like humans have linear chromosomes, with 22 autosomes and 2 sex chromosomes totaling 24 unique chromosomes
The total length of the human genome is about 6.4 billion base pairs when considering the diploid state
Mitochondrial DNA in humans contributes an additional 16,569 base pairs to the total genomic content
The largest human chromosome, chromosome 1, spans 249 million base pairs
Chromosome Y in humans is the smallest, with about 59 million base pairs
Introns make up roughly 25% of the human genome, while exons constitute about 1.5%
Repetitive DNA elements occupy over 50% of the human genome, including LINEs and SINEs
The human genome has approximately 1.5% of its sequence coding for proteins
Centromeric regions in the human genome total around 4-5% of the chromosomal length
Telomeres in human chromosomes consist of TTAGGG repeats averaging 5-15 kb in length
Heterochromatin comprises about 30% of the human genome, often gene-poor
The effective genome size after masking repeats is about 2.5 billion bp for mapping purposes
Human genome GC content averages 40.9% across all chromosomes
The genome of the fruit fly Drosophila melanogaster is 180 million base pairs
Arabidopsis thaliana genome size is 135 million base pairs with 5 chromosomes
Baker's yeast Saccharomyces cerevisiae genome is 12 million base pairs across 16 chromosomes
Escherichia coli K-12 genome is 4.6 million base pairs, circular chromosome
The mouse genome Mus musculus is 2.8 billion base pairs, highly similar to human
Rice Oryza sativa genome is 430 million base pairs with over 400 Mb euchromatin
The wheat genome Triticum aestivum is approximately 17 billion base pairs, hexaploid
Corn Zea mays genome size is 2.3 billion base pairs
The chimpanzee genome Pan troglodytes is 3.0 billion base pairs, 98.8% identical to human
Neanderthal genome draft size matches modern humans at ~3.1 billion bp
The bacterial genome of Mycobacterium tuberculosis is 4.4 million base pairs
Caenorhabditis elegans genome is 100 million base pairs with 6 chromosomes
The pufferfish Takifugu rubripes genome is 400 million base pairs, compact vertebrate genome
Plasmodium falciparum malaria parasite genome is 23 million base pairs

Genome Size and Structure Interpretation

The human genome is a sprawling, repetitive metropolis of 3.2 billion letters, where the functional districts are astonishingly compact, proving that we are built from vast libraries where only a few crucial shelves hold the actual instructions.

Sequencing Projects

Human Genome Project officially completed in 2003 with 99% coverage at 1x depth
The first human genome sequence cost $2.7 billion and took 13 years
Illumina HiSeq platform enabled 100x coverage human genomes for under $1,000 by 2015
The 1000 Genomes Project sequenced 2,504 individuals from 26 populations at 6x coverage
UK Biobank sequenced exomes of 500,000 participants at 30x depth
The Cancer Genome Atlas (TCGA) generated 2.5 petabytes of genomic data from 11,000 tumors
Earth BioGenome Project aims to sequence all 1.8 million eukaryotic species by 2028
The first bacterial genome, Haemophilus influenzae, sequenced in 1995 at 1.8 Mb
Human ENCODE project mapped functional elements across 30% of the genome using multiple assays
The Neanderthal genome sequenced from three individuals at 1.3x average coverage in 2010
PacBio long-read sequencing achieved N50 contig size of 13 Mb for human genome CHM13 assembly
Oxford Nanopore MinION sequenced entire human genome in real-time at 30x coverage
The Telomere-to-Telomere (T2T) consortium completed the first fully gap-free human genome in 2022
All of Us Research Program plans to sequence 1 million diverse U.S. genomes
BGI sequenced the first individual human genome (YH) in 2008 using SOAP assembler
The rice genome fully sequenced in 2005 by Beijing Institute of Genomics at 95% coverage
Mouse genome sequenced by Celera and public consortium in 2002 at 7x coverage
The human reference GRCh38 released in 2013 incorporating 75 new assemblies
GTEx project sequenced RNA from 54 tissues across 948 donors

Sequencing Projects Interpretation

From a $2.7 billion, 13-year solo debut to aiming for an encyclopedic catalog of all 1.8 million complex lifeforms, genomics has compressed eons of discovery into mere decades, evolving from a single, painstakingly assembled book into a real-time, continent-spanning library built by and for humanity.

Sources & References

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