A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1150205



Internal ID15534392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:33533389..33540888hg38UCSC Ensembl
Innerchr2:33758456..33765955hg19UCSC Ensembl
Innerchr2:33611960..33619459hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg387500
hg197500
hg187500
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv581310
Supporting Variants
SamplesNINDS_66
Known GenesRASGRP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1150205
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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