A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516293



Internal ID8410568
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv667386, nssv700683, nssv673060
Samples
Known GenesCAST, ERAP1, ERAP2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516293
Frequency
Sample Size2026
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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