A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519817



Internal ID15447110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:87198940..87222426hg38UCSC Ensembl
Innerchr5:86494757..86518243hg19UCSC Ensembl
Innerchr5:86530513..86553999hg18UCSC Ensembl
Innerchr5:86530513..86553999hg17UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3823487
hg1923487
hg1823487
hg1723487
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv677103, nssv658898
Samples
Known GenesLOC101929380
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519817
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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