A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588627



Internal ID16376036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23683585..23684825hg38UCSC Ensembl
Innerchr22:24025772..24027012hg19UCSC Ensembl
Innerchr22:22355772..22357012hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381241
hg191241
hg181241
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8044n54
Supporting Variantsnssv952692, nssv952693, nssv952691
Samples
Known GenesGUSBP11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588627
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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