A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151430



Internal ID15528053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18890274..19019828hg38UCSC Ensembl
Innerchr22:18877787..19007341hg19UCSC Ensembl
Innerchr22:17257787..17387341hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38129555
hg19129555
hg18129555
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588173
Supporting Variants
SamplesHGDP00582
Known GenesDGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1151430
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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