The extent of human genomic variation
| Variable . | Value . | Source . |
|---|---|---|
| Whole genome | ||
| No. BPs in the human genome | 3 × 109 | Kruglyak and Nickerson1 |
| No. SNPs in the human genome | 1 × 107 | Kruglyak and Nickerson1 |
| No. validated HapMap SNPs | 4 × 106 | HapMap P2 |
| No. validated HapMap exonic SNPs | 7 × 104 | HapMap P2 |
| No. validated HapMap NS coding SNPs | 3 × 104 | HapMap P2 |
| Estimated no. BPs affected by CNVs | > 3 × 108 | Redon et al101 |
| Individual genome | ||
| SNP frequency in the genome | 1/300 BP | Kruglyak and Nickerson1 |
| Estimated no. CNVs per individual genome | > 100 | Feuk et al8 |
| Variable . | Value . | Source . |
|---|---|---|
| Whole genome | ||
| No. BPs in the human genome | 3 × 109 | Kruglyak and Nickerson1 |
| No. SNPs in the human genome | 1 × 107 | Kruglyak and Nickerson1 |
| No. validated HapMap SNPs | 4 × 106 | HapMap P2 |
| No. validated HapMap exonic SNPs | 7 × 104 | HapMap P2 |
| No. validated HapMap NS coding SNPs | 3 × 104 | HapMap P2 |
| Estimated no. BPs affected by CNVs | > 3 × 108 | Redon et al101 |
| Individual genome | ||
| SNP frequency in the genome | 1/300 BP | Kruglyak and Nickerson1 |
| Estimated no. CNVs per individual genome | > 100 | Feuk et al8 |
BP indicates base pair; SNP, single nucleotide polymorphism; NS, nonsynonymous; CNV, copy number variant; P2, phase 2.