We identified candidate genes in DA-CNVRs in a number of well-established disease-associated loci, including chr2p24.3 (MYCN amplification in cancer)24, chr22q11.21 (COMT and TBX1 deletion in neuropsychiatric disease and congenital heart conditions)25–27, and chr17q21.1 (NR1D1, deletion and duplication associated with response to lithium in bipolar disease and major depressive disorder)28,29. Here, TBX1 is linked to cancer.