A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv908047



Internal ID16202003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45182849..45360928hg38UCSC Ensembl
Innerchr2:45409988..45588067hg19UCSC Ensembl
Innerchr2:45263492..45441571hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38178080
hg19178080
hg18178080
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv581709
Supporting Variants
Samples
Known GenesLINC01121
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv908047
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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