A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588637



Internal ID16376046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23683794..23685350hg38UCSC Ensembl
Innerchr22:24025981..24027537hg19UCSC Ensembl
Innerchr22:22355981..22357537hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381557
hg191557
hg181557
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8045n54
Supporting Variantsnssv952795, nssv952796, nssv952794
Samples
Known GenesGUSBP11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588637
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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