16p11.2 deletion variant

Aliases: 16p11.2 CNV deletion, 16p11.2 del, 16p11.2 deletion, 16p11.2 deletions, 220 kb deletion of chromosome 16p11.2, chromosome 16p11.2 deletion, previously identified deletion on chromosome 16p11.2, reciprocal deletion of 16p11.2
External links: ClinVar

Evidence from: primary | all sources

Related entities (13)

Subject	Relation	Object	p-value	Evidence
16p11.2 deletion	risk_factor_for	ASD	—	1
16p11.2 deletion	associated_with	ASD	2e-14	1
16p11.2 deletion	associated_with	epilepsy	—	1
16p11.2 deletion	risk_factor_for	epilepsy	—	1
16p11.2 deletion	risk_factor_for	extreme obesity	—	1
16p11.2 deletion	associated_with	head size	—	1
16p11.2 deletion	risk_factor_for	intellectual disability	—	1
16p11.2 deletion	risk_factor_for	macrocephaly	—	1
16p11.2 deletion	risk_factor_for	obesity	—	1
16p11.2 deletion	associated_with	obesity	—	1
16p11.2 deletion	associated_with	psychiatric traits	—	1
16p11.2 deletion	risk_factor_for	schizophrenia	—	1
autism	associated_with	16p11.2 deletion	—	1

Mentioned in (12)

Papers in which this entity is mentioned.

Human 3D brain organoids: steering the demolecularization of brain and neurological diseases. (2023)
Neural correlates of polygenic risk score for autism spectrum disorders in general population. (2020)
Neural cell adhesion molecule Negr1 deficiency in mouse results in structural brain endophenotypes and behavioral deviations related to psychiatric disorders. (2019)
Opposite effects on facial morphology due to gene dosage sensitivity. (2014)
Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity. (2013)
Distribution of disease-associated copy number variants across distinct disorders of cognitive development. (2013)
CNVs: harbingers of a rare variant revolution in psychiatric genetics. (2012)
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. (2011)
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. (2011)
Large copy-number variations are enriched in cases with moderate to extreme obesity. (2010)
Genomewide association studies: history, rationale, and prospects for psychiatric disorders. (2009)
Growth of white matter in the adolescent brain: role of testosterone and androgen receptor. (2008)

Merged raw entities (8)

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
16p11.2 deletion	variant	12	27
16p11.2 cnv deletion	variant	—	—
16p11.2 del	variant	—	—
16p11.2 deletions	variant	—	—
220 kb deletion of chromosome 16p11.2	variant	—	—
chromosome 16p11.2 deletion	variant	—	—
previously identified deletion on chromosome 16p11.2	variant	—	—
reciprocal deletion of 16p11.2	variant	—	—