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QuantiSNP is a tool to identify copy number variation (CNV) in Illumina Infinium I/II SNP, Affymetrix 500K and SNP 6.0 genotyping data. The tool is available, but no longer maintained, since May 31st, 2011..


Genetics; DNA polymorphism; Genetics


  • Operation: Variant detection
  • Software interface: Command-line user interface
  • Language: MATLAB
  • Operating system: Linux; Microsoft Windows
  • License: Not stated
  • Cost: Free
  • Version name: 2.1
  • Credit: The Wellcome Trust, UK Engineering and Physical Sciences Research Council Life Sciences Interface Doctoral Training Studentship, he UK Medical Research Council.
  • Contact: Jiannis Ragoussis ioannis.ragoussis _at_ | Christopher C. Holmes cholmes _at_
  • Collection: -


Colella S, Yau C, Taylor JM, Mirza G, Butler H, Clouston P, Bassett AS, Seller A, Holmes CC, Ragoussis J "QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data." Nucleic Acids Res. 2007;35(6):2013-25. Epub 2007 Mar 6.
PMID: 17341461
PMCID: PMC1874617

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