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Title: Maternal modifiers and parent-of-origin bias of the autism 16p11.2 CNV      
dateReleased:
01-30-2017
privacy:
information not avaiable
aggregation:
instance of dataset
dateCreated:
01-11-2016
refinement:
curated
ID:
doi:10.15154/1226522
creators:
Eichler, EE
Duyzend, MH
Nuttle, X
Coe, BP
Baker, C
Nickerson, DA
Bernier, R
availability:
available
types:
other
description:
Recurrent deletions and duplications at chromosome 16p11.2 are a major genetic contributor to autism but also associate with a wider range of pediatric diagnoses. In order to investigate the potential genetic basis for phenotype variability, we assessed the parent-of-origin of the 16p11.2 copy number variant (CNV) and the presence of additional CNVs using commercial SNP microarrays in over 100 families where detailed phenotype data were available. Additional phenotypic and genotypic data is available to approved researchers from the Simons Foundation SFARI Base (https://sfari.org/resources/sfari-base).
accessURL: https://doi.org/10.15154/1226522
storedIn:
NIMH Data Archives
qualifier:
not compressed
format:
HTML
accessType:
landing page
authentication:
none
authorization:
none
abbreviation:
NIH
homePage: http://www.nih.gov/
ID:
SCR:011417
name:
National Institutes of Health
abbreviation:
NIMH
homePage: http://www.nimh.nih.gov/
ID:
SCR:011431
name:
National Institute of Mental Health

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