A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6582n54



Internal ID20140006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55807428..56027874hg38UCSC Ensembl
chr19:56318794..56539240hg19UCSC Ensembl
chr19:61010606..61231052hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38220447
hg19220447
hg18220447
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv580349, nsv580350
SamplesHGDP00705
Known GenesNLRP11, NLRP13, NLRP4, NLRP5, NLRP8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6582n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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