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Table 1 Summary of the types of DNMs across the genome

From: Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications

DNM class Size Description Average number of DNMs* per genome
Copy number variant (CNV) > 50 bp Genomic deletions or duplications that can span both gene regions and noncoding, regulatory regions 0.05–0.16 [8, 23, 26]
Insertion/deletion (indel) < 50 bp Insertions or deletions of a small number of nucleotides that alter the reading frame of a protein are called frameshift mutations and typically result in a truncated peptide 2.6–9 [8, 23, 26, 27]
Single-nucleotide variant (SNV) 1 bp Single base-pair change in the genome 45–89 [3, 7, 8, 23, 27, 28]
SNV subtype Likely gene disrupting Results in a truncated peptide, often referred to as stop-gain, stop-lost, or splice-altering mutations
Missense Changes the amino acid sequence of a peptide but does not lead to peptide truncation
Synonymous Mutations that do not alter peptide sequence or length but may alter regulatory regions or RNA processing
Noncoding Changes that occur outside the protein-coding regions of the genome
Mosaic SNV 1 bp Single base-pair changes that occur in only a subset of cells in the human body, sometimes referred to as somatic mutations 0.05–22.2 [23,30,, 27, 2931]
Mosaic CNV > 50 bp Deletions or duplications that only occur in a subset of cells in the human body 5e−4–7.7e−3 [32, 35]
  1. *De novo estimates for CNVs and indels should be considered as a lower bound because of biases against discovery