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Article

Structural variation mutagenesis of the human genome: Impact on disease and evolution.

Environmental and molecular mutagenesis - 1 Jun 2015

Lupski James R

Abstract excerpt

Watson-Crick base-pair changes, or single-nucleotide variants (SNV), have long been known as a source of mutations. However, the extent to which DNA structural variation, including duplication and deletion copy number variants (CNV) and copy number neutral inversions and translocations, contribute to human genome variation and disease has been appreciated only recently. Moreover, the potential complexity of...

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Identifiers

PMID: 25892534
DOI: 10.1002/em.21943
PMCID: PMC4609214

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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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