Comparison of genomic overlap for 1q21.1 CNVs. CNV breakpoints were determined using Affymetrix 2.7 M whole genome array for all subjects except B2 whose breakpoints were determined using a SignatureChip WG v1.1. Red bars indicate deletion of 1q21.1 region while blue bars indicate a duplication. The previously reported minimal deletion region is shown in green. Genes seen in the majority of our cases (core genes) are highlighted in yellow.