A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580253



Internal ID16020976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54744993..54764062hg38UCSC Ensembl
Innerchr19:55256445..55275514hg19UCSC Ensembl
Innerchr19:59948257..59967326hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3819070
hg1919070
hg1819070
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv901650
Samples
Known GenesKIR2DL3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580253
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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