rare CNV variant

Aliases

CNV, Copy-number variation, copy number variation, rare CNVs, rare copy number variant, rare copy number variation

External links

ClinVar

No related entities found.

Mentioned in (8)

Papers in which this entity is mentioned.

• Transcriptomic signatures across human tissues identify functional rare genetic variation. (2020)
• New insights into the generation and role of de novo mutations in health and disease. (2016)
• Clinical whole-exome sequencing for the diagnosis of mendelian disorders. (2013)
• ACMG clinical laboratory standards for next-generation sequencing. (2013)
• Pan-cancer patterns of somatic copy number alteration. (2013)
• GISTIC2.0 facilitates sensitive and confident localization of the targets of focal somatic copy-number alteration in human cancers. (2011)
• CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. (2011)
• PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. (2007)

Merged raw entities (4)

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