From: New insights into the generation and role of de novo mutations in health and disease
Inherited variants | De novo mutations | |
---|---|---|
Single-nucleotide variants (SNVs) | 3.5 to 4.4 million [4] | 44 to 82 [9, 10, 12, 13, 15] |
Number of coding SNVs | 22,186 [10] | 1–2 [25] |
Insertions and deletions (indels <50 bp) | ~550,000 [4] | 2.9–9 [26, 91] |
Large indels (50–5000 bp)a | ~1000 [4] | 0.16 [26] |
Copy-number variations (CNVs) | ~160 [4] | 0.0154 [26]b |
Selection pressure in previous generation(s) | High | None |
Damaging capacity of variants | Majority with small effect | High |
Differences in population | Yes | None |
Parental/paternal age effect | None | Strong |
Detection of variants | Imputable | Not imputable |
Amenable to positional cloningc | Yes | No |