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cnvHap tool is for detection of copy number variation (CNV) and genotypes. The algorithm learns the chromosome-wide haplotype model of CNVs and cluster-based models of allele intensities and integrates data from from multiple sources. It can also predict copy number association. The Authors claim cnvHap to detect more genotypes than PennCNV and QuantiSNP. Available from the Author.


Genotyping; Genetics


  • Operation: Genotyping
  • Software interface: Command-line user interface
  • Language: -
  • Operating system: Linux; Mac OS X; Microsoft Windows
  • License: Not stated
  • Cost: -
  • Version name: 1.033
  • Credit: Genome Canada and Genome Quebec funded genotyping on the Illumina Human1M platform, Research Council UK fellowship, Medical Research Council, ohnson & Johnson and the South East England Development Agency, Imperial College Division of Medicine PhD studentship.
  • Contact: l.coin _at_
  • Collection: -


Coin LJ, Asher JE, Walters RG, Moustafa JS, de Smith AJ, Sladek R, Balding DJ, Froguel P, Blakemore AI "cnvHap: an integrative population and haplotype-based multiplatform model of SNPs and CNVs." Nat Methods. 2010 Jul;7(7):541-6.
PMID: 20512141

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