A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588508



Internal ID16375917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22558303..22558526hg38UCSC Ensembl
Innerchr22:22900722..22900945hg19UCSC Ensembl
Innerchr22:21230722..21230945hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38224
hg19224
hg18224
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8023n54
Supporting Variantsnssv952234
Samples
Known GenesPRAME
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588508
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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