Here we describe genome-wide CNV results from the first dataset from the International Standards for Cytogenomic Arrays (ISCA) consortium5 that includes analysis of 15,749 cases and 10,118 controls. This study was designed to assess the frequency of CNVs in this population and initiate an evidence-based process to determine the functional significance of structural variation across the genome. Compared to individually rare CNVs, recurrent CNVs lend themselves to large case-control studies due to their relatively higher frequency. Therefore, we have focused our initial analysis on 14 recurrent CNV regions to statistically assess the correlation between rare CNVs and developmental disorders. Furthermore, ongoing analysis of the ISCA CNV dataset compared to normal structural variation will delineate genomic regions and individual genes that are subject to dosage effects resulting in intellectual and other developmental disabilities. Such efforts will result in a human gene dosage map for developmental disorders.
