A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv663398



Internal ID15400050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54791531..54861907hg38UCSC Ensembl
Innerchr19:55302983..55373362hg19UCSC Ensembl
Innerchr19:59994795..60065174hg18UCSC Ensembl
Innerchr19:59994795..60065174hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3870377
hg1970380
hg1870380
hg1770380
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517143
Supporting Variants
Samples
Known GenesKIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, LOC100287534
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv663398
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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