A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7969n54



Internal ID20141393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18874235..19046019hg38UCSC Ensembl
chr22:18861748..19033532hg19UCSC Ensembl
chr22:17241748..17413532hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38171785
hg19171785
hg18171785
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588178, nsv588164, nsv588159, nsv588175, nsv588177, nsv588173, nsv588180, nsv588179, nsv588158
SamplesHGDP00021, 1780862274_A, 1780854430_A, HGDP00582, HGDP01268
Known GenesDGCR10, DGCR2, DGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7969n54
Frequency
Sample Size17421
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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