Among these potentially novel CNVs, we provide additional support for a genomic disorder mapping to 15q25.2, which we find in five affected individuals (including two affected siblings) and zero controls (Supplementary Figure 12). Our results combined with earlier studies of schizophrenia and autism (four cases vs. zero controls)16 implicate this CNV as a high-risk allele for pediatric neurological disease with variable outcomes (Supplementary Note, Supplementary Table 9) as well as neuropsychiatric disease (p = 0.037). In addition, our data support the pathogenicity of CNVs at 2q13 whose significance was uncertain because they were observed in a small number of control samples50. In our study, we observed 12 deletions (p = 0.032) and 9 duplications (p = 0.022) on chromosome 2q13 in patients but only one deletion in controls. We furthermore find an enrichment of the deletion in cardiovascular cases (peak p = 0.012) and the duplication in cases with craniofacial features (peak p = 0.010). These results are consistent with two previously reported deletion cases with multiple heart defects and two duplication patients with various facial and skeletal features50. Additionally,
