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Letter

Nature Genetics 35, 247–251 (1 November 2003) | doi:10.1038/ng1250

Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection

Sjoerd Repping , Helen Skaletsky , Laura Brown , Saskia K M van Daalen , Cindy M Korver , Tatyana Pyntikova , Tomoko Kuroda-Kawaguchi , Jan W A de Vries , Robert D Oates , Sherman Silber , Fulco van der Veen , David C Page & Steve Rozen

Many human Y-chromosomal deletions are thought to severely impair reproductive fitness, which precludes their transmission to the next generation and thus ensures their rarity in the population. Here we report a 1.6-Mb deletion that persists over generations and is sufficiently common to be considered a polymorphism.