CNV variant

Aliases

CNV allele, CNV loci, CNV region, CNV regions, CNV studies, CNV-related genomic disorder, CNVs, CNVs >10 Kb, Copy Number Variation, Copy number variation, copy number variant, copy number variation, copy-number variant, de novo CNV, de novo CNV events, deletions, duplications, insertions, large CNV, non-rare CNV, novel CNV, putative de novo CNV, rare CNV, recurrent CNV, spontaneous CNV, structural variant, very rare CNV

External links

ClinVar

Related entities (12)

Mentioned in (71)

Papers in which this entity is mentioned.

• Genome modelling and design across all domains of life with Evo 2. (2026)
• Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States. (2025)
• Three-dimensional genome landscape of primary human cancers. (2025)
• ConsensuSV-ONT - A modern method for accurate structural variant calling. (2025)
• Genome-wide association testing beyond SNPs. (2025)
• Transient loss of Polycomb components induces an epigenetic cancer fate. (2024)
• Detection and analysis of complex structural variation in human genomes across populations and in brains of donors with psychiatric disorders. (2024)
• Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex lipoprotein(a) KIV-2 VNTR. (2024)
• The Application of Long-Read Sequencing to Cancer. (2024)
• Combination of genomic instability score and TP53 status for prognosis prediction in lung adenocarcinoma. (2023)
• At the dawn: cell-free DNA fragmentomics and gene regulation. (2022)
• Human Retrotransposons and Effective Computational Detection Methods for Next-Generation Sequencing Data. (2022)
• Circulating Tumor DNA Is Associated with Response and Survival in Patients with Advanced Leiomyosarcoma. (2022)
• Detection of somatic structural variants from short-read next-generation sequencing data. (2021)
• Integrative reconstruction of cancer genome karyotypes using InfoGenomeR. (2021)
• Best practices for variant calling in clinical sequencing. (2020)
• Structural variation in the sequencing era. (2020)
• Immuno-genomic landscape of osteosarcoma. (2020)
• Diverse noncoding mutations contribute to deregulation of cis-regulatory landscape in pediatric cancers. (2020)
• Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors. (2020)
• Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing. (2020)
• Longitudinal therapy monitoring of ALK-positive lung cancer by combined copy number and targeted mutation profiling of cell-free DNA. (2020)
• Single-Cell RNA-Seq Reveals AML Hierarchies Relevant to Disease Progression and Immunity. (2019)
• Exploring the landscape of focal amplifications in cancer using AmpliconArchitect. (2019)
• The Clonal Evolution of Metastatic Osteosarcoma as Shaped by Cisplatin Treatment. (2019)
• Structural variant calling: the long and the short of it. (2019)
• Serial liquid biopsies for detection of treatment failure and profiling of resistance mechanisms in -rearranged lung cancer. (2019)
• Comprehensive analysis of structural variants in breast cancer genomes using single molecule sequencing (2019)
• Comprehensive Characterization of Cancer Driver Genes and Mutations. (2018)
• Genome-wide somatic variant calling using localized colored de Bruijn graphs. (2018)
• Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line. (2018)
• Sensitivity to sequencing depth in single-cell cancer genomics. (2018)
• Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome. (2018)
• Picky comprehensively detects high-resolution structural variants in nanopore long reads. (2018)
• The evolution of tumour phylogenetics: principles and practice. (2017)
• Integrative clustering of multi-level 'omic data based on non-negative matrix factorization algorithm. (2017)
• Integrated analysis of gene expression and copy number identified potential cancer driver genes with amplification-dependent overexpression in 1,454 solid tumors. (2017)
• The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. (2017)
• Orthotopic patient-derived xenografts of paediatric solid tumours. (2017)
• Mapping and phasing of structural variation in patient genomes using nanopore sequencing. (2017)
• PGBD5 promotes site-specific oncogenic mutations in human tumors. (2017)
• The impact of structural variation on human gene expression. (2017)
• Extrachromosomal oncogene amplification drives tumour evolution and genetic heterogeneity. (2017)
• New insights into the generation and role of de novo mutations in health and disease. (2016)
• Global analysis of somatic structural genomic alterations and their impact on gene expression in diverse human cancers. (2016)
• Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia. (2015)
• A global reference for human genetic variation. (2015)
• Opposite effects on facial morphology due to gene dosage sensitivity. (2014)
• Hidden Markov Model-Based CNV Detection Algorithms for Illumina Genotyping Microarrays. (2014)
• Genomic landscape of Ewing sarcoma defines an aggressive subtype with co-association of STAG2 and TP53 mutations. (2014)
• Recurrent somatic structural variations contribute to tumorigenesis in pediatric osteosarcoma. (2014)
• An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage. (2014)
• Diminishing return for increased Mappability with longer sequencing reads: implications of the k-mer distributions in the human genome. (2014)
• ACMG clinical laboratory standards for next-generation sequencing. (2013)
• Dosage transmission disequilibrium test (dTDT) for linkage and association detection. (2013)
• Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas. (2013)
• The Genotype-Tissue Expression (GTEx) project. (2013)
• Absolute quantification of somatic DNA alterations in human cancer. (2012)
• Copy number variations in 6q14.1 and 5q13.2 are associated with alcohol dependence. (2012)
• cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate. (2012)
• Novel mutations target distinct subgroups of medulloblastoma. (2012)
• Assessing telomeric DNA content in pediatric cancers using whole-genome sequencing data. (2012)
• GISTIC2.0 facilitates sensitive and confident localization of the targets of focal somatic copy-number alteration in human cancers. (2011)
• A hidden Markov model for copy number variant prediction from whole genome resequencing data. (2011)
• A framework for variation discovery and genotyping using next-generation DNA sequencing data. (2011)
• Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion. (2011)
• Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library. (2010)
• BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. (2009)
• Copy-number-variation and copy-number-alteration region detection by cumulative plots. (2009)
• PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. (2007)
• Accurate and reliable high-throughput detection of copy number variation in the human genome. (2006)

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