CNVs variant

Aliases

CNV, CNVs, Copy Number Variation, copy number variants, copy number variations

External links

ClinVar

Related entities (9)

Mentioned in (34)

Papers in which this entity is mentioned.

• Three-dimensional genome landscape of primary human cancers. (2025)
• Genome-wide association testing beyond SNPs. (2025)
• Mapping genomic loci implicates genes and synaptic biology in schizophrenia. (2022)
• Discovery of regulatory noncoding variants in individual cancer genomes by using cis-X. (2020)
• 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)
• Accucopy: Accurate and Fast Inference of Allele-specific Copy Number Alterations from Low-coverage Low-purity Tumor Sequencing Data (2020)
• ENIGMA and global neuroscience: A decade of large-scale studies of the brain in health and disease across more than 40 countries. (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)
• The ENCODE Blacklist: Identification of Problematic Regions of the Genome. (2019)
• Structural variant calling: the long and the short of it. (2019)
• Identification of novel candidate disease genes from de novo exonic copy number variants. (2017)
• The evolution of tumour phylogenetics: principles and practice. (2017)
• Recent genetic findings in schizophrenia and their therapeutic relevance. (2015)
• Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia. (2015)
• An introductory review of parallel independent component analysis (p-ICA) and a guide to applying p-ICA to genetic data and imaging phenotypes to identify disease-associated biological pathways and systems in common complex disorders. (2015)
• Hidden Markov Model-Based CNV Detection Algorithms for Illumina Genotyping Microarrays. (2014)
• The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data. (2014)
• Common DNA methylation alterations in multiple brain regions in autism. (2014)
• Recurrent somatic structural variations contribute to tumorigenesis in pediatric osteosarcoma. (2014)
• Copy number variation: what is it and what has it told us about child psychiatric disorders? (2013)
• ACMG clinical laboratory standards for next-generation sequencing. (2013)
• The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation. (2013)
• 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)
• CNVs: harbingers of a rare variant revolution in psychiatric genetics. (2012)
• A hidden Markov model for copy number variant prediction from whole genome resequencing data. (2011)
• High frequencies of de novo CNVs in bipolar disorder and schizophrenia. (2011)
• Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. (2011)
• Large copy-number variations are enriched in cases with moderate to extreme obesity. (2010)
• Finding the missing heritability of complex diseases. (2009)
• Genomewide association studies: history, rationale, and prospects for psychiatric disorders. (2009)
• Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. (2005)

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.