Table 2.

Case Control De Novo CNV Burden

Probands (n)CNVs, n (%)ORP Value
SNP array
 SSC*8419 (1%)......
 PCGC: all CNVs46222 (4.7%)4.67×10–5
 PCGC: novel loci...13 (2.8%)2.70.02
WES
 SSC87214 (1.6%)......
 PCGC: all CNVs35619 (5.6%)3.56×10–4
 PCGC: novel loci...13 (3.9%)2.30.03
  • CNV indicates copy number variant; OR, odds ratio; PCGC, Pediatric Cardiac Genetics Consortium; SNP, single nucleotide polymorphism; SSC, Simons Simplex Collection; and WES, whole exome sequencing.

  • * Controls derived from Sanders et al.24

  • Controls derived from 3 studies: Iossifov et al71; Sanders et al26; and an additional set of unpublished controls provided by State selected by the same criteria and sequenced as described in ref. 26.