de novo CNVs in Family 2.

Identity of de novo CNVs found in Family 1 (5a) and Family 2 (5b) and the gene regions (overlapping or nearby). De novo CNVs are defined as those that are present in either or both twins but not found in parents. SD displays the percentage of overlap with segmental duplications, ‘0’ indicates no overlap between the CNV and segmental duplication and ‘1’ indicates 90–100% overlap. The table includes genomic locations as well as twin specific breakpoints which allow for the assessment of regions of overlap with the Database of Genomic Variants (Toronto, Ontario). SI No. = Serial number. Novel indicates a CNV which is not present in The Database of Genomic Variants (DGV).