A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7973n54



Internal ID20141397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18890274..19111906hg38UCSC Ensembl
chr22:18877787..19099419hg19UCSC Ensembl
chr22:17257787..17479419hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38221633
hg19221633
hg18221633
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588182, nsv588181
Samples
Known GenesDGCR10, DGCR11, 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)dgv7973n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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