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A tool for indentification of copy number variation (CNV) specifically in next-generation sequencing (NGS) data. CoNVaDING algorithm contains quality control metrics and can be used for clinical diagnostics. Requires: samtools, Perl, and the Statistics::Normality package for perl.


Biology; genetics


  • Operation: Genetic variation analysis; sequencing quality control
  • Software interface: Command-line user interface
  • Language: Perl
  • Operating system: Linux; Mac OS X
  • License: GNU Lesser General Public License version 3
  • Cost: Free
  • Version name: 1.2.0
  • Credit: -
  • Contact: Lennart Johansson l.johansson _at_ | Freerk van Dijk f.van.dijk02 _at_
  • Collection: -


Johansson LF, van Dijk F, de Boer EN, van Dijk-Bos KK, Jongbloed JD, van der Hout AH, Westers H, Sinke RJ, Swertz MA, Sijmons RH, Sikkema-Raddatz B "CoNVaDING: Single Exon Variation Detection in Targeted NGS Data." Hum Mutat. 2016 May;37(5):457-64.
PMID: 26864275

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