A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580309



Internal ID16021032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54772261..54775604hg38UCSC Ensembl
Innerchr19:55283713..55287056hg19UCSC Ensembl
Innerchr19:59975525..59978868hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg383344
hg193344
hg183344
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6576n54
Supporting Variantsnssv901761, nssv901760
Samples
Known GenesKIR2DL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580309
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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