A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580250



Internal ID16020973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54736641..54861907hg38UCSC Ensembl
Innerchr19:55248107..55373362hg19UCSC Ensembl
Innerchr19:59939919..60065174hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38125267
hg19125256
hg18125256
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6564n54
Supporting Variantsnssv901647
Samples
Known GenesKIR2DL1, KIR2DL3, 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)nsv580250
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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