A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv951587



Internal ID15898857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18889442..19034845hg38UCSC Ensembl
Innerchr22:18876955..19022358hg19UCSC Ensembl
Innerchr22:17256955..17402358hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38145404
hg19145404
hg18145404
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588164
Supporting Variants
Samples
Known GenesDGCR10, DGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv951587
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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