A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1150752



Internal ID15880663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:229866681..230035049hg38UCSC Ensembl
Innerchr2:230731397..230899765hg19UCSC Ensembl
Innerchr2:230439641..230608009hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38168369
hg19168369
hg18168369
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584653
Supporting Variants
SamplesNINDS_242
Known GenesFBXO36, SLC16A14, TRIP12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1150752
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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