A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6470n54



Internal ID22774365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42813916..43141405hg38UCSC Ensembl
chr19:43318068..43645557hg19UCSC Ensembl
chr19:48009908..48337397hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38327490
hg19327490
hg18327490
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv579676, nsv579677
Samples
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG2, PSG6, PSG7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6470n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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