| MdnCNV cases | Anonymized control cases | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Family | HOU1209a | HOU1404a | HOU3425a | HOU3579 | mCNV7a | Average (95 CI) | Fam1 | Fam2 | Fam3 | Fam4 | Fam5 | Average (95 CI) | |
Individual (gender) | BAB3097 (F) | BAB3596 (M) | mCNV3/BAB9484 (M) | BAB9637 (M) | mCNV7 (F) | P1 | P2 | P3 | P4 | P5 | |||
Parental age of conception (years) | Mother | 29.4 | 37.0 | 37.8 | 36.9 | 35 | 35.2 (31.0–39.5) | 17.2 | 30.3 | 41 | 28.4 | 32.3 | 29.8 (19.2–40.5) |
Father | 29.7 | 41.7 | 41.6 | 35.9 | 37 | 37.2 (31.0–43.3) | 19.2 | 29.9 | 46.1 | 27.7 | 34.2 | 31.4 (19.2–43.7) | |
Number of de novo substitution mutationsb | Germline SNV | 75 | 94 | 102 | 74 | 89 | 93.2 (75.3–111.1) | 47 | 69 | 98 | 64 | 72 | 72.2 (48.8–95) |
Post-zygotic SNV | 9 | 5 | 9 | 4 | 9 | 7.2 (4.1–10.3)** | 1 | 3 | 2 | 2 | 3 | 2.2 (1.2–3.2) | |
Total | 84 | 99 | 111 | 78 | 98 | 93.2 (75.3–111.0) | 48 | 72 | 100 | 66 | 75 | 72.2 (48.9–95.5) | |
Ti:Tv ratio | 1.8 | 2.1 | 1.6 | 2.0 | 2.3 | 2.2 (1.62–2.30) | 2.4 | 2.4 | 1.1 | 3.1 | 2.0 | 2.2 (1.29–3.1) |