A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580331



Internal ID16021054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54791531..54861907hg38UCSC Ensembl
Innerchr19:55302983..55373362hg19UCSC Ensembl
Innerchr19:59994795..60065174hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3870377
hg1970380
hg1870380
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6581n54
Supporting Variantsnssv901789, nssv901788, nssv901787
Samples
Known GenesKIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, LOC100287534
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580331
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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