Carriers of ZNF804A CNVs were of both sexes and were generally unremarkable with respect to age of onset and other features of their disorder (Supplementary Table 3). For the duplication carrier, genotypes from the patient’s father and from a sibling of the patient’s mother were available. Because the mother’s sibling carried the haplotype background the duplication was located on, but not the duplication, it could be inferred that the duplication event had most likely taken place either in the germ line of the patient’s mother or during gametogenesis in one of the maternal grandparents. For the deletion carriers, genotypes were not available for either the parents or the parents’ relatives; thus, it was not possible to estimate the timing of the mutation.
