P573: CNVision: A computational framework to predict functional impact of intragenic copy number variants*
Abstract
Intragenic copy number variants (CNVs), also known as exonic or monogenic CNVs, are deletions or duplications of genomic material occurring within a single gene. These alterations can range from a single exon to multiple exons or an entire gene. Intragenic CNVs can lead to diverse molecular and functional consequences, including shifts in the reading frame that introduce premature stop codons and trigger nonsense-mediated decay, or in-frame losses or gains that alter protein length and function.
Fields of Study & Subjects
Genomic variations and chromosomal abnormalities
Genomics and Rare Diseases
Cancer Genomics and Diagnostics
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104064–104064
- Publication date
- 1 January 2026
- Language
- EN