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Article

Structural haplotypes and recent evolution of the human 17q21.31 region.

Nature genetics - 1 Jul 2012

Boettger Linda M, Handsaker Robert E, Zody Michael C, McCarroll Steven A

Abstract excerpt

Structurally complex genomic regions are not yet well understood. One such locus, human chromosome 17q21.31, contains a megabase-long inversion polymorphism, many uncharacterized copy-number variations (CNVs) and markers that associate with female fertility, female meiotic recombination and neurological disease. Additionally, the inverted H2 form of 17q21.31 seems to be positively selected in Europeans. We...

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Identifiers

PMID: 22751096
DOI: 10.1038/ng.2334
PMCID: PMC4020351

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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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