Table 3.

Genomic deletions and duplication identified by the assay

Mutant sites identified by assay
GeneGenomic eventChromosomeStart*End*Size (bp)Ratio
BRCA1Deletion exons 1–151741,226,14541,327,157101,0130.509
BRCA1Duplication exon 131741,230,56241,235,8365,2751.578
BRCA1Deletion exons 14–201741,203,97541,229,29725,3230.519
BRCA1Deletion exon 171741,219,59641,219,7551600.495
BRCA2Deletion exons 1–21332,889,02032,890,9001,8810.489
BRCA2Deletion exon 211332,950,73432,952,0701,3370.544
  • *Breakpoints are flanked by Alu and other repeats, which are not captured.

  • Reads per base pair for deletion or duplication/reads per base pair for wild-type genotype.