Figure 1.
Illustration of the chromosome 10q23.33 region with the identified CYP2C copy number variants (CNVs) noted in relation to the location of known human genes and transcripts from the UCSC Genes track, segmental duplications, microarray (purple), MLPA (light green), and ddPCR (dark green) probe locations, structural variants from the Database of Genomic Variants (DGV), ClinGen, and DECIPHER. Blue bars represent copy number gains (duplications), red bars represent copy number losses (deletions). The minimum and maximum CNV sizes in the clinical CMA cohorts are denoted by thick and thin horizontal bars, respectively.