A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516193



Internal ID15443486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:41229175..41241508hg38UCSC Ensembl
Innerchr5:41229277..41241610hg19UCSC Ensembl
Innerchr5:41265034..41277367hg18UCSC Ensembl
Innerchr5:41265034..41277367hg17UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3812334
hg1912334
hg1812334
hg1712334
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv690578, nssv676644, nssv666705
Samples
Known GenesC6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516193
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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