A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581310



Internal ID16022033
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 StatusM
Merged Variants
Supporting Variantsnssv1150205, nssv1150204, nssv904892
SamplesNINDS_66, HGDP01003
Known GenesRASGRP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581310
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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