A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580248



Internal ID16020971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54735664..54851404hg38UCSC Ensembl
Innerchr19:55247131..55362859hg19UCSC Ensembl
Innerchr19:59938943..60054671hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38115741
hg19115729
hg18115729
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6564n54
Supporting Variantsnssv901644, nssv901645
Samples
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, LOC100287534
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580248
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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