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A tool to copy number variation (CNV). The algorithm uses a reference set to estimate the sequence coverage of each exon.


Genetic variation


  • Operation: Variation detection
  • Input: BED
  • Output: -
  • Software interface: Command-line user interface
  • Language: R
  • Operating system: Linux; Mac OS X; Microsoft Windows
  • License: Not stated
  • Cost: Free
  • Version name: -
  • Maturity: Stable
  • Credit: The National Cancer Institute, National Institute of Health.
  • Contact: eric.polley _at_
  • Collection: -


Chang LC, Das B, Lih CJ, Si H, Camalier CE, McGregor PM 3rd, Polley E "RefCNV: Identification of Gene-Based Copy Number Variants Using Whole Exome Sequencing." Cancer Inform. 2016 Apr 27;15:65-71.
PMID: 27147817
PMCID: PMC4849420

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