A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588180



Internal ID16028903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18890274..19046019hg38UCSC Ensembl
Innerchr22:18877787..19033532hg19UCSC Ensembl
Innerchr22:17257787..17413532hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38155746
hg19155746
hg18155746
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7969n54
Supporting Variantsnssv951653, nssv1151459, nssv951652, nssv951654, nssv951655
Samples1780854430_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)nsv588180
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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