Inherited CNVs in Family 2.

Identity of inherited CNVs found in Family 1 (7), Family 2 (8) and the gene regions which they overlap. Inherited CNVs are those which are present in either or both parents and transmitted to either or both twins. All size is in kb. SD indicates the percentage of overlap between segmental duplications and CNVs. ‘0’ means there is no overlap between CNV and segmental duplication, ‘1’ means 90–100% and ‘2’ means 50–90% overlap. Parental CNVs not transmitted to offspring were not included in Table 5–8 so the total number of CNVs present in Table 2–4 was not same as Table 5–8. The table includes genomic locations as well as individual specific break points 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).