A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580251



Internal ID16020974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54738105..54832151hg38UCSC Ensembl
Innerchr19:55249570..55343606hg19UCSC Ensembl
Innerchr19:59941382..60035418hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3894047
hg1994037
hg1894037
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6564n54
Supporting Variantsnssv901648
Samples
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR3DL1, LOC100287534
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580251
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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