copy number variant variant

Aliases

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

External links

ClinVar

Related entities (10)

Mentioned in (37)

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)
• Shared genetic architecture across psychiatric disorders. (2021)
• 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)
• Defining the Genetic, Genomic, Cellular, and Diagnostic Architectures of Psychiatric Disorders. (2019)
• 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)
• Identification of novel candidate disease genes from de novo exonic copy number variants. (2017)
• The evolution of tumour phylogenetics: principles and practice. (2017)
• Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism. (2016)
• Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia. (2015)
• Track data hubs enable visualization of user-defined genome-wide annotations on the UCSC Genome Browser. (2014)
• Mosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorder. (2014)
• THetA: inferring intra-tumor heterogeneity from high-throughput DNA sequencing data. (2013)
• Distribution of disease-associated copy number variants across distinct disorders of cognitive development. (2013)
• ACMG clinical laboratory standards for next-generation sequencing. (2013)
• Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. (2011)
• Facial phenotypes in subgroups of prepubertal boys with autism spectrum disorders are correlated with clinical phenotypes. (2011)
• Uncovering hidden variance: pair-wise SNP analysis accounts for additional variance in nicotine dependence. (2011)
• Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion. (2011)
• Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. (2011)
• Structural MRI of pediatric brain development: what have we learned and where are we going? (2010)
• 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)
• Finding the missing heritability of complex diseases. (2009)
• A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. (2009)
• Genome-wide association studies in ADHD. (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

Merged raw entities (3)

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