A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv673060



Internal ID15063026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:96734501..96880683hg38UCSC Ensembl
Innerchr5:96070205..96216387hg19UCSC Ensembl
Innerchr5:96095961..96242143hg18UCSC Ensembl
Innerchr5:96095961..96242143hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38146183
hg19146183
hg18146183
hg17146183
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516293
Supporting Variants
Samples
Known GenesCAST, ERAP1, ERAP2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv673060
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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