Fig. 1

Converging evidence between SNV and CNV data. a Very rare atypical deletions define the 17q21.31 minimal region (encompassing MAPT and KANSL1 [46]) using CNVs from 29,085 cases diagnosed with ID/DD and 19,584 controls. Red and blue bars indicate deletions and duplications, respectively. The black box indicates boundaries of H1D (direct haplotype with duplication) and H2D (inverted haplotype duplication) haplotype-associated duplications as determined by genome sequencing. The light gray box represents overextended boundaries detected on SNP arrays. b Severe de novo SNVs disrupting KANSL1 were found in patients without the typical microdeletion, which supports KANSL1 as the gene underlying Koolen-de Vries syndrome [47, 135]. CNV copy number variant, DD developmental delay, ID intellectual disability, SNV single-nucleotide variant