Figure 2: Co-aggregation of SNPs with deletion breakpoints found in the analysed samples.
From: Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms
(a) Normalized SNP densities increased while conservation decreased in 400-kbp regions around breakpoints of each class. (b) Densities increase for substitutions of all types around NH and TEI breakpoints but this is not the case for NAHR breakpoints. Increase of C to T substitutions around NAHR breakpoints is driven by SNPs in CpG motifs as evident from red bars. Furthermore, this is solely due to enrichment of CpG motifs (Supplementary Fig. 6). This is consistent with common knowledge that NAHR events are associated with sites of recombination.
