Finally, we looked for evidence of association for any other CNVs in the SSC sample, evaluating all high-confidence autosomal CNVs together with all confirmed de novo CNVs. In this instance, we did not use a frequency cutoff to define a set of rare transmitted events. A total of 3,667 recurrent regions were identified; 6 showed relative enrichment in probands and 5 in siblings. No result reaches significance after correction for multiple comparisons (Table S7, Figure 7C). The region showing the greatest difference in probands compared to siblings was 16p11.2 (p=0.001).
