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Table 1 Comparison of inherited and de novo variants

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
  1. aOwing to technical limitations, the number and mutation rate for large indels ranging between 50 and 5000 bp remain uncertain. Novel sequencing approaches will likely provide more-accurate estimates (see Chaisson et al. [205])
  2. bPer generation for CNVs larger than 100 kb
  3. cPositional cloning by linkage analysis or homozygosity mapping