The frequency of the CNV deletion on 6q14.1 is high (48.5% in cases and 49.8% in controls). Supplemental Figure 2 provides the distribution of deletions and duplications from the DGV. CNVs with frequencies such as those noted for 5q13.2 are not uncommon. Additionally, based on other reports in the Database of Genomic Variants, for the 5q13.2 region, both deletions and duplications have been identified but frequencies vary dramatically by sample size and ethnicity of studied individuals. For 6q14.1, the DGV does not report on additional studies with reasonably large or diverse samples for us to validate the frequency of the observed CNV – nonetheless, the Database of Genomic Variants (DGV) notes 228 other instances where CNVs of such high frequency have been previously identified (restricting sample size in studies to be greater than 30).
