A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6576n54



Internal ID20140000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54772261..54775604hg38UCSC Ensembl
chr19:55283713..55287056hg19UCSC Ensembl
chr19:59975525..59978868hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg383344
hg193344
hg183344
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv580309, nsv580308
Samples
Known GenesKIR2DL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6576n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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