Figure 1. Characterization of 16p13.1 duplications in individuals with thoracic aortic aneurysms and dissections.
(A) The extent of 16p13.1 duplications in controls (green), the discovery cohort (blue) and the replication cohort (black) is shown. The scale is in megabases. The common duplicated region that is spanned by all CNVs is boxed. Below is a schematic of the 16p13.1-p12.3 region, which includes the location of genes and low-copy repeats (LCR, arrows).