A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580285



Internal ID16021008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54766285..54773045hg38UCSC Ensembl
Innerchr19:55277737..55284497hg19UCSC Ensembl
Innerchr19:59969549..59976309hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg386761
hg196761
hg186761
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6571n54
Supporting Variantsnssv901701, nssv901702, nssv901703
Samples
Known GenesKIR2DL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580285
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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