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CNVfinder is a tool to detect copy number variation in whole-genome exome sequencing data generated using amplicon-based enrichment technologies.


Genetics; Genetic variation


  • Operation: Variant detection; Copy number estimation
  • Software interface: Command-line user interface
  • Language: Python
  • Operating system: Microsoft Windows, Mac OS X, Linux
  • License: The MIT License
  • Cost: Free
  • Version name: -
  • Maturity: Stable
  • Credit: The Wellcome Trust.
  • Contact: Nigel P. Carter npc _at_
  • Collection: -


Fiegler H, Redon R, Andrews D, Scott C, Andrews R, Carder C, Clark R, Dovey O, Ellis P, Feuk L, French L, Hunt P, Kalaitzopoulos D, Larkin J, Montgomery L, Perry GH, Plumb BW, Porter K, Rigby RE, Rigler D, Valsesia A, Langford C, Humphray SJ, Scherer SW, Lee C, Hurles ME, Carter NP "Accurate and reliable high-throughput detection of copy number variation in the human genome." Genome Res. 2006 Dec;16(12):1566-74. Epub 2006 Nov 22.
PMID: 17122085
PMCID: PMC1665640

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