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Article

Structural variation in the human genome: the impact of copy number variants on clinical diagnosis.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2007

Rodriguez-Revenga Laia, Mila Montserrat, Rosenberg Carla, Lamb Allen, Lee Charles

Abstract excerpt

Over the past few years, the application of whole-genome scanning array technologies has catalyzed the appreciation of a new form of submicroscopic genomic imbalances, referred to as copy number variants. Copy number variants contribute substantially to genetic diversity and result from gains and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17873648
DOI: 10.1097/gim.0b013e318149e1e3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17873648-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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