Table 4.
Per-individual statistics of variant calls
| T2T-CHM13 | GRCh37 | GRCh38 | |
|---|---|---|---|
| Mean number of variants per individual | 4,868,620 | 4,939,144 | 4,892,944 |
| Mean number of SNVs (fraction of total variants) | 3,757,819 (80.2%) |
4,041,524 (81.8%) |
3,995,225 (81.6%) |
| Mean number of indels (fraction of total variants) | 928,186 (19.8%) |
901,550 (18.2%) |
901,818 (18.4%) |
| Mean number of homozygous variants (IQR) | 1,218,295 (1,197,992–1,235,602) |
1,491,412 (1,476,977–1,503,380) |
1,491,407 (1,476,992–1,503,377) |
| Mean number of heterozygous variants (IQR) | 2,479,761 (2,444,590–2,512,655) |
2,490,186 (2,462,633–2,520,624) |
2,490,402 (2,462,660–2,520,740) |
| Mean number of singletons (IQR) | 17,034 (14,007–18,263) |
11,501 (10,550–13,122) |
12,145 (11,181–13,756) |
| Mean number of LoF variants (IQR) | 669 (641–702) |
848 (829–867) |
668 (649–689) |
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(IQR) Inter-quartile range, (LoF) loss of function.
