Fig. 5
From: SVFX: a machine learning framework to quantify the pathogenicity of structural variants
Example of a highly pathogenic cancer duplication that influences coding and regulatory elements in the genome. This panel presents a highly pathogenic duplication that influences coding and regulatory elements for multiple genes, including BCL11B, SETD3, CCNK, and HHIPL1. Similar to pathogenic deletion Fig. 4, this panel also displays the Hi-C profile to highlight TAD boundaries that are disrupted by this highly pathogenic duplication