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Article

Implications of gene copy-number variation in health and diseases.

Journal of human genetics - 1 Jan 2012

Almal Suhani H, Padh Harish

Abstract excerpt

Inter-individual genomic variations have recently become evident with advances in sequencing techniques and genome-wide array comparative genomic hybridization. Among such variations single nucleotide polymorphisms (SNPs) are widely studied and better defined because of availability of large-scale detection platforms. However, insertion-deletions, inversions, copy-number variations (CNVs) also populate our...

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Identifiers

PMID: 21956041
DOI: 10.1038/jhg.2011.108

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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