Figure 1. Illustration of CNVRs and intersection with genes.

Illustrative CNVs are shown with benign CNVs above the genomic region and pathogenic CNVs below (blue and pink lines respectively). Shaded boxes bound CNVRs with local peak coverage regions indicated by darker shading. Genes overlapped by both benign and pathogenic CNVs are termed Class X ‘passenger' genes here (yellow). Where only a single non-passenger pathogenic gene is within a region, it is termed a ‘solitary Class P' gene (orange).