Table 4.
Copy number estimates of the PHRs across the RPC cohort (n=4,187) and UK Biobank WGS cohort (n=490,374).
| Cohort | Num. of PHRs | Num. of samples | % | XX | % | XY | % |
|---|---|---|---|---|---|---|---|
| RPC | <4 | 3 | 0.07% | 0 | 0.00% | 3 | 0.15% |
| 4 | 261 | 6.23% | 126 | 5.93% | 135 | 6.54% | |
| 5 | 1,645 | 39.29% | 828 | 39.00% | 817 | 39.58% | |
| 6 | 2,189 | 52.28% | 1,127 | 53.09% | 1,062 | 51.45% | |
| 7 | 85 | 2.03% | 39 | 1.84% | 46 | 2.23% | |
| >7 | 4 | 0.10% | 3 | 0.14% | 1 | 0.05% | |
| Total | 4,187 | 100.00% | 2,123 | 100.00% | 2,064 | 100.00% | |
| RPC (Parents only) | <4 | 1 | 0.04% | 0 | 0.00% | 1 | 0.08% |
| 4 | 143 | 5.47% | 67 | 5.14% | 76 | 5.81% | |
| 5 | 931 | 35.64% | 453 | 34.74% | 478 | 36.54% | |
| 6 | 1,477 | 56.55% | 755 | 57.90% | 722 | 55.20% | |
| 7 | 59 | 2.26% | 28 | 2.15% | 31 | 2.37% | |
| >7 | 1 | 0.04% | 1 | 0.08% | 0 | 0.00% | |
| Total | 2,612 | 1 | 1,304 | 100.00% | 1,308 | 100.00% | |
| UK Biobank | <4 | 234 | 0.05% | 128 | 0.05% | 106 | 0.05% |
| 4 | 33,964 | 6.93% | 18,195 | 6.84% | 15,769 | 7.03% | |
| 5 | 185,625 | 37.85% | 100,601 | 37.82% | 85,024 | 37.89% | |
| 6 | 262,723 | 53.58% | 142,803 | 53.69% | 119,920 | 53.45% | |
| 7 | 7,631 | 1.56% | 4,164 | 1.57% | 3,467 | 1.55% | |
| >7 | 197 | 0.04% | 104 | 0.04% | 93 | 0.04% | |
| Total | 490,374 | 100.00% | 265,995 | 100.00% | 224,379 | 100.00% |