A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580330



Internal ID16021053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54790359..54881299hg38UCSC Ensembl
Innerchr19:55301811..55392755hg19UCSC Ensembl
Innerchr19:59993623..60084567hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3890941
hg1990945
hg1890945
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6580n54
Supporting Variantsnssv1150374
SamplesNINDS_237
Known GenesFCAR, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, LOC100287534
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580330
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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