copy number variation variant

Aliases

CNV, CNVs, copy number variants, copy number variation, copy number variations

External links

ClinVar

No related entities found.

Mentioned in (35)

Papers in which this entity is mentioned.

• LINE-1 retrotransposons mediate cis-acting transcriptional control in human pluripotent stem cells and regulate early brain development. (2025)
• Rapid brain tumor classification from sparse epigenomic data. (2025)
• Three-dimensional genome landscape of primary human cancers. (2025)
• Genome-wide association testing beyond SNPs. (2025)
• At the dawn: cell-free DNA fragmentomics and gene regulation. (2022)
• Nanopore sequencing technology, bioinformatics and applications. (2021)
• Detection of somatic structural variants from short-read next-generation sequencing data. (2021)
• Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder. (2021)
• Integrative reconstruction of cancer genome karyotypes using InfoGenomeR. (2021)
• Biologically informed deep neural network for prostate cancer discovery. (2021)
• Accucopy: Accurate and Fast Inference of Allele-specific Copy Number Alterations from Low-coverage Low-purity Tumor Sequencing Data (2020)
• Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors. (2020)
• Longitudinal therapy monitoring of ALK-positive lung cancer by combined copy number and targeted mutation profiling of cell-free DNA. (2020)
• Provocative questions in osteosarcoma basic and translational biology: A report from the Children's Oncology Group. (2019)
• Clinical presentation, diagnosis, and management of fetal alcohol spectrum disorder. (2019)
• Comprehensive analysis of structural variants in breast cancer genomes using single molecule sequencing (2019)
• Nanopore Sequencing Reveals High-Resolution Structural Variation in the Cancer Genome (2017)
• The impact of structural variation on human gene expression. (2017)
• Extrachromosomal oncogene amplification drives tumour evolution and genetic heterogeneity. (2017)
• The clinical trial landscape in oncology and connectivity of somatic mutational profiles to targeted therapies. (2016)
• Hidden Markov Model-Based CNV Detection Algorithms for Illumina Genotyping Microarrays. (2014)
• Recurrent somatic structural variations contribute to tumorigenesis in pediatric osteosarcoma. (2014)
• ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (2013)
• A comparative analysis of algorithms for somatic SNV detection in cancer. (2013)
• Copy number variations in 6q14.1 and 5q13.2 are associated with alcohol dependence. (2012)
• Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. (2012)
• 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)
• Allele-specific copy number analysis of tumors. (2010)
• DNA copy number, including telomeres and mitochondria, assayed using next-generation sequencing. (2010)
• TumorBoost: normalization of allele-specific tumor copy numbers from a single pair of tumor-normal genotyping microarrays. (2010)
• Tackling the widespread and critical impact of batch effects in high-throughput data. (2010)
• 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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