A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588626



Internal ID16376035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23683585..23684658hg38UCSC Ensembl
Innerchr22:24025772..24026845hg19UCSC Ensembl
Innerchr22:22355772..22356845hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381074
hg191074
hg181074
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8044n54
Supporting Variantsnssv952689, nssv952690
Samples
Known GenesGUSBP11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588626
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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