A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580307



Internal ID16021030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54772261..54774689hg38UCSC Ensembl
Innerchr19:55283713..55286141hg19UCSC Ensembl
Innerchr19:59975525..59977953hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg382429
hg192429
hg182429
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6575n54
Supporting Variantsnssv901754, nssv901756, nssv901755
Samples
Known GenesKIR2DL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580307
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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