{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T16:53:42Z","timestamp":1782320022693,"version":"3.54.5"},"reference-count":33,"publisher":"S. Karger AG","issue":"1-6","license":[{"start":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T00:00:00Z","timestamp":1774569600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T00:00:00Z","timestamp":1774569600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sex Dev"],"abstract":"<jats:p>Introduction: Diagnostic copy number variants (CNVs) have been detected in up to 30% of individuals with DSD. Tools have been developed to detect CNVs from exome\/genome sequencing. Methods: Sequencing data from a cohort of individuals with DSD were re-analysed through a CNV-caller (Ximmer) after no diagnostic single nucleotide variants were identified through traditional sequencing analysis. Results: A deletion was identified for an individual with gonadal dysgenesis that encompassed all exons of the gene WT1. 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