The results of this study should be interpreted in the context of some limitations. First, the majority of controls were genotyped on a higher resolution array (Hap1M) than patients (Hap610), resulting in a conservative bias toward the null hypothesis due to better CNV detection in controls than patients. This effect is evident when comparing the higher CNV rates in Hap610 controls to Hap1M controls (Table 1). However, a comparison of Hap610 cases to Hap610 controls did not reveal overall burden differences within the limits of this restricted sample size (Table S12, available online).
