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. Author manuscript; available in PMC: 2015 Jun 18.
Published in final edited form as: Annu Rev Genomics Hum Genet. 2009;10:451–481. doi: 10.1146/annurev.genom.9.081307.164217

Figure 4.

Figure 4

New mutation rates for SNP versus CNV. Constant SNP mutation rates and variable CNV mutation rates across the human genome. Examples of human disease traits (OMIM numbers are shown) with different contribution of CNV versus SNP. Note that for some diseases at specific loci, CNVs outweigh SNPs as a mutational cause for disease. CNV de novo locus-specific rates can vary throughout the genome, whereas SNP rates are essentially constant. The SNP rate for CpG dinucleotides is constant but about ten times higher than other bases because of methyl-mediated deamination of cytosine to uracil, causing transition mutations.