A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580194



Internal ID16020917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54227805..54330460hg38UCSC Ensembl
Innerchr19:54731679..54841732hg19UCSC Ensembl
Innerchr19:59423491..59533544hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38102656
hg19110054
hg18110054
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6549n54
Supporting Variantsnssv901493, nssv901494
Samples
Known GenesLILRA3, LILRA5, LILRA6, LILRB2, LILRB5, MIR4752
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580194
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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