A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580334



Internal ID16021057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54791531..54871595hg38UCSC Ensembl
Innerchr19:55302983..55383051hg19UCSC Ensembl
Innerchr19:59994795..60074863hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3880065
hg1980069
hg1880069
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6580n54
Supporting Variantsnssv901800
Samples
Known GenesKIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, LOC100287534
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580334
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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