A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151458



Internal ID15507968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18890274..19037868hg38UCSC Ensembl
Innerchr22:18877787..19025381hg19UCSC Ensembl
Innerchr22:17257787..17405381hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38147595
hg19147595
hg18147595
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588178
Supporting Variants
Samples1780862274_A
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)nssv1151458
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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