Copy Number Variable Region (CNVR) and Copy Number Variable Segment (CNVseg).

<p>Due to the inconsistent calling of CNV boundaries, CNVR refers to a union of overlapping CNVs while a CNVseg represents the minimal units of CNV. In the two panels, black bars denote CNVR, below which each bar denote a CNV call in one individual. Red and blue bars represent deletion and duplication, respectively. (A). An example of CNVR and CNVsegs on chromosome 17 starting from 18,229,719 to 18,296,116. Dashed lines (green) dissect CNVR into small contiguous CNVsegs. (B). An example of a complex CNV region. The rectangle (orange) points out that one individual has both deletion and duplication in the region, to which we refer as complex CNVR in this study. (C). CNVR length distribution. Length distribution of 1440 CNVRs constructed in this study ranges from 1.03 kb to 1.73 Mb.</p>