CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer
Fig 3
Example of CNV merging on a chromosome X duplication.
A. Entire duplication of chromosome X. CovCopCan detects six CNV areas without the merging CNV algorithm. B. By using the merging CNV algorithm, the duplication detected includes all of chromosome X, although some amplicons appear as neutral (grey dots). C. The exported CNV in the VCF format contains only one line corresponding to the duplication of chromosome X (partial screenshots from CovCopCan).