A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1150204



Internal ID15530845
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
SamplesHGDP01003
Known GenesRASGRP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1150204
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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