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. 2018 May 14;27(15):2755–2761. doi: 10.1093/hmg/ddy175

Table 1.

Sample set characteristics

Cases Controls Total
n 795 474 1269
% Male 74% 51%
Number of identified CNV–SNVs All CNVs 71 34 105
Del 27 11 38
Dup 44 23 67
Total of genic sequence queried (Mb) All CNVs 375, 7 226, 6 602, 3
Del 236, 2 140, 9 377, 1
Dup 139, 4 85, 7 225, 2

CNV–SNVs; compound heterozygous events characterized by the co-occurrence of a CNV and a non-synonymous point mutation at the same locus.