A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv908098



Internal ID15855368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45622938..45681498hg38UCSC Ensembl
Innerchr2:45850077..45908637hg19UCSC Ensembl
Innerchr2:45703581..45762141hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3858561
hg1958561
hg1858561
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv581741
Supporting Variants
Samples
Known GenesPRKCE
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv908098
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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