A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1153574



Internal ID15878917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:107454063..107470737hg38UCSC Ensembl
Innerchr5:106789764..106806438hg19UCSC Ensembl
Innerchr5:106817663..106834337hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3816675
hg1916675
hg1816675
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv599334
Supporting Variants
SamplesHGDP01278
Known GenesEFNA5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1153574
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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