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Article

Structural diversity and African origin of the 17q21.31 inversion polymorphism.

Nature genetics - 1 Jul 2012

Steinberg Karyn Meltz, Antonacci Francesca, Sudmant Peter H, Kidd Jeffrey M, Campbell Catarina D, Vives Laura, Malig Maika, Scheinfeldt Laura, Beggs William, Ibrahim Muntaser, Lema Godfrey, Nyambo Thomas B, Omar Sabah A, Bodo Jean-Marie, Froment Alain, Donnelly Michael P, Kidd Kenneth K, Tishkoff Sarah A, Eichler Evan E

Abstract excerpt

The 17q21.31 inversion polymorphism exists either as direct (H1) or inverted (H2) haplotypes with differential predispositions to disease and selection. We investigated its genetic diversity in 2,700 individuals, with an emphasis on African populations. We characterize eight structural haplotypes due to complex rearrangements that vary in size from 1.08-1.49 Mb and provide evidence for a 30-kb H1-H2 double...

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Identifiers

PMID: 22751100
DOI: 10.1038/ng.2335
PMCID: PMC3408829

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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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