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Article

CNVinspector: a web-based tool for the interactive evaluation of copy number variations in single patients and in cohorts.

Journal of medical genetics - 1 Aug 2013

Knierim Ellen, Schwarz Jana Marie, Schuelke Markus, Seelow Dominik

Abstract excerpt

OBJECTIVES: Many genetic disorders are caused by copy number variations (CNVs) in the human genome. However, the large number of benign CNV polymorphisms makes it difficult to delineate causative variants for a certain disease phenotype. Hence, we set out to create software that accumulates and v...

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Share to Databases, Genetic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23729504
DOI: 10.1136/jmedgenet-2012-101497

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23729504-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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