Fig. 5
From: Detecting copy number variation in next generation sequencing data from diagnostic gene panels
Example of output from the CNV tool. The example shows identification of a deletion of exon 3 in the BRCA2 gene in one of the control samples (CS_12). Part A shows a plot of the logCNR score for all sliding windows across the exons of the BRCA2 gene. The horizontal lines at − 1.00 and + 0.58 represent expected score values for single-allele deletions and duplications, respectively. The score values in the region of exon 3 show clear signals of a deletion. Part B shows a zoomed in representation of the plot for exon 3 with the CNV deletion, whereas its neighbouring exons (2 and 4) have normal coverage depth. Part C shows the logCNR table listing score values for selected sliding windows covering the exon2–exon3 and exon3–exon4 junctions