the minimal common region on 1q24.3, which demonstrates a single 72 kbp CNV in controls (again suggesting detectability of larger events), and two loci that harbor very small CNVs detectable only on the highest resolution 1.2M probe arrays. These two regions have high probe coverage on the 550K control array (46 probes within the smallest 6p22.3 Signature call and 40 probes in the MCR of 2q24.3). Further, all of these regions demonstrate de novo CNVs in our samples, supporting the hypothesis that these are pathogenic loci and not simply common copy number variants that we failed to detect with SNP platforms.
