A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580246



Internal ID16020969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54735664..54815284hg38UCSC Ensembl
Innerchr19:55247131..55326739hg19UCSC Ensembl
Innerchr19:59938943..60018551hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3879621
hg1979609
hg1879609
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv901642
Samples
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR3DL3, LOC100287534
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580246
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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