Article

Recurrent structural variation and recent turnover at the 17q21.31 locus in humans and great apes

2025-08-15

Abstract excerpt

<h4>ABSTRACT</h4> The 17q21.31 locus in humans harbors several complex structural haplotypes including a ∼970kb inversion. Different inversion haplotypes have been associated with susceptibility to microdeletions causing Koolen-de Vries syndrome and variation in fecundity and recombination rates. Here, using 210 haplotype-resolved human genome assemblies and pangenome graph-based approaches we characterize 11 dis...

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Literature Corpus work: b372c0c9-226d-5695-9090-9532f7d2db08
DOI: 10.1101/2025.08.15.670618

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