Using the whole-genome SNP data, with a criteria of LOD score > 10 and a size > 10 kilobases31, several copy number variants (CNVs) were identified that segregated from parent to offspring (Fig. 1D, E; Sup. Table 4 & 5; Sup. Fig. 1). One CNV greater than 100 kb was identified in cytoband 9p24.1, near, but not identical, to a region previously identified in scans of psychiatric disorder patients by Malhotra et al.43. Three of the CNVs (6q16.1, 6q22.1, and 9p24.1) were subsequently validated in DNA isolated from lymphoblastoid cell lines from the Familly-811 quartet. Overall, these genomic data are consistent with the ethnicity of previous descriptions of members of Family-811, and it revealed that the BD patients contained no detectable large (> 10 kb) de novo structural genomic variants unique to both BD patients suggesting that CNVs of this nature are unlikely to influence any observed cellular phenotypes unless introduced spontaneously during reprograming.
