(Affymetrix) GeneChip500K Mapping Array (see ref. 3 for details of the sample and CNV calling). (4) CNV data reported by Ikeda et al.26 comprising a Japanese sample of 519 cases and 513 controls. Including the data from the current study on transmissions and non-transmissions to affected offspring, and excluding the 328 overlapping Bulgarian cases, the combined case–control data sets contain a total of 7907 independent cases and 10 585 controls.