A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6564n54



Internal ID20139988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54735664..54861907hg38UCSC Ensembl
chr19:55247131..55373362hg19UCSC Ensembl
chr19:59938943..60065174hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38126244
hg19126232
hg18126232
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv580249, nsv580248, nsv580247, nsv580251, nsv580250, nsv580258
Samples
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, LOC100287534
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6564n54
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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