copy number variant variant

Aliases

CNV, CNVs, copy number variants, submicroscopic chromosomal deletions, submicroscopic chromosomal duplications

External links

ClinVar

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Mentioned in (22)

Papers in which this entity is mentioned.

• Genome-wide association testing beyond SNPs. (2025)
• The landscape of drug sensitivity and resistance in sarcoma. (2024)
• The Application of Long-Read Sequencing to Cancer. (2024)
• A harmonized public resource of deeply sequenced diverse human genomes. (2024)
• Single-cell analysis of hepatoblastoma identifies tumor signatures that predict chemotherapy susceptibility using patient-specific tumor spheroids. (2022)
• Polygenic risk scores: from research tools to clinical instruments. (2020)
• Best practices for variant calling in clinical sequencing. (2020)
• Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing. (2020)
• The Clonal Evolution of Metastatic Osteosarcoma as Shaped by Cisplatin Treatment. (2019)
• Comprehensive analysis of structural variants in breast cancer genomes using single molecule sequencing (2019)
• CNVScope: Visually Exploring Copy Number Aberrations in Cancer Genomes. (2019)
• Detection of Somatic Structural Variants Enables Quantification and Characterization of Circulating Tumor DNA in Children With Solid Tumors. (2018)
• Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line. (2018)
• The evolution of tumour phylogenetics: principles and practice. (2017)
• Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia. (2015)
• THetA: inferring intra-tumor heterogeneity from high-throughput DNA sequencing data. (2013)
• ACMG clinical laboratory standards for next-generation sequencing. (2013)
• Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion. (2011)
• BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. (2009)
• Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy. (2009)
• Sensitive and accurate detection of copy number variants using read depth of coverage. (2009)
• Using whole-genome sequencing to evaluate copy number variants of the LPA Kringle-IV type 2 domain with DRAGEN

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