Relationship between Genomic Distance and Overlap between Segmental Duplications and CNVs

Abstract

<p>The number of CNVs that overlap at least one segmental duplication was calculated for a range of margin sizes. At a margin size of zero (complete overlap with CNV), 38 of 80 observed CNVs overlap segmental duplications. The extent of overlap between CNVs and segmental duplications (black solid line) increases with margin size. The red dotted line (expected CNVs) indicates the colocalization of segmental duplications with randomly permuted genomic regions of lengths equal to the observed CNVs. Each point of the permuted data was calculated by determining the 95th percentile of the overlap counts. The association between CNVs and segmental duplications remains significant to the 2-Mb window size (<i>p</i> < 0.01) and is highlighted in the yellow rectangle.</p