A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv951666



Internal ID15898936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18903102..18988074hg38UCSC Ensembl
Innerchr22:18890615..18975587hg19UCSC Ensembl
Innerchr22:17270615..17355587hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3884973
hg1984973
hg1884973
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588190
Supporting Variants
Samples
Known GenesDGCR5, DGCR6, PRODH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv951666
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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