biostudies-literatureUnknown38(4)Liu X<h4>Purpose</h4>To provide a validated method to identify copy number variation (CNV) in regions of the Y chromosome of infertile men by next-generation sequencing (NGS).<h4>Methods</h4>Semen analysis was used to determine the quality of semen and diagnose infertility. Deletion of the azoospermia factor (AZF) region in the Y chromosome was detected by a routine sequence-tagged-site PCR (STS-PCR) method. We then used the NGS method to detect CNV in the AZF region, including deletions and duplications.<h4>Results</h4>A total of 326 samples from male infertility patients, family members, and sperm donors were studied between January 2011 and May 2017. AZF microdeletions were detected in 120 patients by STS-PCR, and these results were consistent with the results from NGS. In addition, of the 1Journal of assisted reproduction and genetics941-948https://www.ebi.ac.uk/biostudies/studies/S-EPMC8079584biostudies-literatureY chromosome structural variation in infertile men detected by targeted next-generation sequencing.PMC8079584Liu XJiang YZhang HZhang XLiu RWang YFei JYu YfalseY chromosome structural variation in infertile men detected by targeted next-generation sequencing.<h4>Purpose</h4>To provide a validated method to identify copy number variation (CNV) in regions of the Y chromosome of infertile men by next-generation sequencing (NGS).<h4>Methods</h4>Semen analysis was used to determine the quality of semen and diagnose infertility. Deletion of the azoospermia factor (AZF) region in the Y chromosome was detected by a routine sequence-tagged-site PCR (STS-PCR) method. We then used the NGS method to detect CNV in the AZF region, including deletions and duplications.<h4>Results</h4>A total of 326 samples from male infertility patients, family members, and sperm donors were studied between January 2011 and May 2017. AZF microdeletions were detected in 120 patients by STS-PCR, and these results were consistent with the results from NGS. In addition, of the 12021-01-01T00:00:00Z2021 Apr2025-04-29T11:33:34.371Z2025-04-06T19:55:06.455ZS-EPMC80795843345490010.1007/s10815-020-02031-x