A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580293



Internal ID16021016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54767976..54776705hg38UCSC Ensembl
Innerchr19:55279428..55288157hg19UCSC Ensembl
Innerchr19:59971240..59979969hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg388730
hg198730
hg188730
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv901714
Samples
Known GenesKIR2DL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580293
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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