We contrasted the total CNV burden between TS cases and controls, stratified by size into four categories: <10 kb, 10–100 kb, 100–500 kb and >500 kb (Table 1). We found a statistically significant increase in the frequency of CNVs >500 kb in cases (27 or 0.15 per individual) compared to controls (15 or 0.06 per individual; p = 0.006). In total, 25 cases (14%) versus 15 controls (6.4%) were found to carry large CNVs, representing an excess of ∼7.6% (95% C.I. = 1.6–13.6%, one-sided Fisher’s exact test p = 0.006). Of the 27 large CNVs found in cases, 24 occurred in regions free of CNVs in controls. Two of the TS cases had two large CNVs each, while no control carried more than one large CNV. Since no controls were available for the CVCR samples, we evaluated the effect of population stratification by testing the correlation of CNV burden with ancestry of the samples, evaluated using PCA. The presence of large CNVs was not correlated with ancestry (p>0.05 for PCs 1 to 4). We also verified that OR estimates for
