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Table 1 Genes with CNVs identified in positive control samples

From: Detecting copy number variation in next generation sequencing data from diagnostic gene panels

Gene name Type of CNV: number of findings
APC Whole gene deletion:1
BRCA1 Single exon deletion: 2; Multi exon deletion: 6; Single exon duplication: 1
BRCA2 Single exon deletion: 1; Multi exon deletion: 1; Single exon duplication: 2; Whole gene deletion: 2
CDH1 Multi exon deletion: 1
CDKN2A Single + partial* exon deletion: 2
MLH1 Multi exon deletion: 3
MSH2 Single exon deletion: 1; Multi exon deletion: 4; Multi exon duplication: 1
NF1 Multi exon deletion: 1; Multi exon duplication: 1; Whole gene deletion: 1
PMS2 Multi exon duplication: 2
PTEN Single exon deletion: 1
STK11 Single exon deletion: 1
VHL Multi exon deletion: 1
  1. *Here partial exon means that CNV breakpoint is inside exon