The central role of sequence homology in the fidelity of DNA repair and replication indicates that regions of the genome with higher diversity may be more prone to replication and repair errors. Notably, we found evidence of an enrichment of small indels from the SNP database (dbSNP) (1.7-fold, P < 10−3) and microsatellites (1.24-fold, P < 10−3) near CNV breakpoints (Fig. 3a). This observation suggests that simple variation may precipitate more mutations, both substitutional and structural, as suggested by recent comparative genomic analyses33.
