Figure 2
From: Incidental copy-number variants identified by routine genome testing in a clinical population
Copy-number variants (CNVs) rearrange adult-onset disease genes in various ways. Each CNV (colored bars) listed in Table 1 and Supplementary Table S2 online is displayed relative to a schematized structure of the adult-onset disease gene it rearranges (black) and the most proximal upstream (left, gray) and downstream (right, gray) genes. The central part of each colored bar (dark green or red) is the minimum region of altered copy number; the flanking parts of each bar (light green or pink) are the maximum affected interval. If the exact size of the CNV was determined, no flanking bars are shown. For some CNVs, disparity between the minimum and maximum affected intervals renders the exact exons affected unclear. *Parent–child pairs are combined into a single line. **Several (but not all) possible alternative first exons are affected. All but one are noncoding.
