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CNspector is a web-based tool for clinical diagnosis and visualization of copy number variation (CNV) using next-generation sequencing (NGS) data.


Genetics; Genetic variation; diagnostics


  • Operation: Visualisation; data retrieval
  • Software interface: Web user interface
  • Language: R-Shiny
  • Operating system: Microsoft Windows, Mac OS X, Linux
  • License: Not stated
  • Cost: Free
  • Version name: -
  • Maturity: Stable
  • Credit: The Snowdome Foundation.
  • Contact: John F. Markham john.markham _at_
  • Collection: -


Markham JF, Yerneni S, Ryland GL, Leong HS, Fellowes A, Thompson ER, De Silva W, Kumar A, Lupat R, Li J, Ellul J, Fox S, Dickinson M, Papenfuss AT, Blombery P "CNspector: a web-based tool for visualisation and clinical diagnosis of copy number variation from next generation sequencing." Sci Rep. 2019 Apr 23;9(1):6426.
PMID: 31015508
PMCID: PMC6478945

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