Several recurrent CNV regions have had equivocal reports in the literature. For example, duplications of 16p13.11 have been previously suggested to be linked with autism,27 while another study proposed that the duplications may be a benign CNV.28 Because of the uncertainty in the literature, duplications in three regions (16p13.11, 15q13 BP4-5 and proximal 1q21) were initially classified as VOUS. Since these duplications were not significantly enriched in the ISCA case cohort or in controls, the classification of these CNVs remains uncertain at this time using the formal case-control assessment.
