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.
Harvard et al. Orphanet Journal of Rare Diseases 2011 6:54 doi:10.1186/1750-1172-6-54