Frequency of sex chromosome involvement in a large cohort of subjects with two copy number variants (CNVs)

• Published in: Cytogenetic and genome research
• Main Authors: Vara, Autumn, Smith, Janice L, Hashmi, S Shahrukh, Wagner, Victoria F, Gunther, Kathryn, Rodriguez-Buritica, David F
• Format: Journal Article
• Language: English
• Published: Switzerland 18.05.2023
• ISSN: 1424-859X
• DOI: 10.1159/000531096

Copy number variants (CNVs) are a common finding in the clinical setting and contribute to both genetic variation and disease. Studies have described the accumulation of multiple CNVs as a disease modifying mechanism. While it has been described how additional CNVs may play a role in phenotype, in w...