Nucleotides (base pairs) |
3.2 × 109
|
Protein-coding genes |
23,500 |
Number of exons |
180,000 |
Size of exome (base pairs) |
30 × 106
|
DNA Sequence variants (DSVs) |
4 ×106
|
Single nucleotide polymorphisms (SNPs) |
3.5 ×106
|
Structural variants (SVs)/Copy number variants (CNVs) |
104 – 105
|
Non-synonymous SNPs (nsSNPs) |
10,000–12,000 |
NsSNP potentially damaging |
100s-1,000s |
Loss-of-function (loF) variants |
120 |
Homozygous LoF variants |
20 |
Variants known to be associated with inherited diseases |
50–100 |
Stop-codon variants |
25–35 |
Homozygous stop codon variants |
2–3 |
De novo variants |
30 |