rare CNV variant

Aliases: CNV, Copy-number variation, copy number variation, rare CNVs, rare copy number variant, rare copy number variation
External links: ClinVar

Evidence from: primary | all sources

Related entities (22)

Subject	Relation	Object	p-value	Evidence
deletion	associated_with	rare CNV	—	1
duplication	associated_with	rare CNV	—	1
environmental factors	interacts_with	rare CNV	—	1
rare CNV	risk_factor_for	ADHD	—	1
rare CNV	associated_with	ASD	—	1
rare CNV	risk_factor_for	autism	—	1
rare CNV	risk_factor_for	autism spectrum disorder	—	1
rare CNV	associated_with	BD	—	1
rare CNV	associated_with	bipolar disorder	—	1
rare CNV	associated_with	case subjects	—	1
rare CNV	associated_with	controls	—	1
rare CNV	associated_with	deletion	—	1
rare CNV	associated_with	duplication	—	1
rare CNV	interacts_with	environmental factors	—	1
rare CNV	associated_with	human genome	—	1
rare CNV	associated_with	obesity	—	1
rare CNV	risk_factor_for	psychiatric disorders	—	1
rare CNV	associated_with	schizophrenia	—	1
rare CNV	risk_factor_for	schizophrenia	—	1
rare CNV	associated_with	SCZ	—	1
rare CNV	associated_with	Simons Simplex Collection	—	1
rare CNV	associated_with	structural variant	—	1

Mentioned in (17)

Papers in which this entity is mentioned.

Transcriptomic signatures across human tissues identify functional rare genetic variation. (2020)
Defining the Genetic, Genomic, Cellular, and Diagnostic Architectures of Psychiatric Disorders. (2019)
Genome-wide association analysis identifies common variants influencing infant brain volumes. (2017)
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)
The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation. (2013)
Pan-cancer patterns of somatic copy number alteration. (2013)
Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3. (2012)
GISTIC2.0 facilitates sensitive and confident localization of the targets of focal somatic copy-number alteration in human cancers. (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)
CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. (2011)
Large copy-number variations are enriched in cases with moderate to extreme obesity. (2010)
The future of genetics in psychology and psychiatry: microarrays, genome-wide association, and non-coding RNA. (2009)
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. (2007)
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. (2005)

Merged raw entities (4)

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.

Raw name	Type	Papers	Mentions
copy-number variation	variant	9	9
rare cnv	variant	8	16
rare copy number variant	variant	—	—
rare copy number variation	variant	—	—