copy number variants variant

Aliases

CNV, CNVs, copy number variants, de novo CNVs, inherited CNVs, rare variants

External links

ClinVar

No related entities found.

Mentioned in (13)

Papers in which this entity is mentioned.

• Cell-Free DNA Fragmentomics: The Novel Promising Biomarker. (2023)
• Best practices for variant calling in clinical sequencing. (2020)
• SVXplorer: Three-tier approach to identification of structural variants via sequential recombination of discordant cluster signatures. (2020)
• Whole-exome sequencing of cervical carcinomas identifies activating ERBB2 and PIK3CA mutations as targets for combination therapy. (2019)
• Comprehensive analysis of structural variants in breast cancer genomes using single molecule sequencing (2019)
• Statistical algorithms improve accuracy of gene fusion detection. (2017)
• The impact of structural variation on human gene expression. (2017)
• Opposite effects on facial morphology due to gene dosage sensitivity. (2014)
• The genomic landscape of the Ewing Sarcoma family of tumors reveals recurrent STAG2 mutation. (2014)
• Common biological networks underlie genetic risk for alcoholism in African- and European-American populations. (2013)
• Copy number variations in 6q14.1 and 5q13.2 are associated with alcohol dependence. (2012)
• Detectable clonal mosaicism from birth to old age and its relationship to cancer. (2012)
• Control-free calling of copy number alterations in deep-sequencing data using GC-content normalization. (2011)

Merged raw entities (1)

All extracted name/type variants the normalize job merged into this entity. Use this to spot wrong merges, or aliases that should be split off.