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 |