A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588343



Internal ID16029066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21978504..22162812hg38UCSC Ensembl
Innerchr22:22332876..22517205hg19UCSC Ensembl
Innerchr22:20662876..20847205hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38184309
hg19184330
hg18184330
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7999n54
Supporting Variantsnssv952008
Samples
Known GenesTOP3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588343
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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