A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588630



Internal ID16376039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23683585..23685247hg38UCSC Ensembl
Innerchr22:24025772..24027434hg19UCSC Ensembl
Innerchr22:22355772..22357434hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381663
hg191663
hg181663
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8045n54
Supporting Variantsnssv952700, nssv952702, nssv952703, nssv952701, nssv952699
Samples
Known GenesGUSBP11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588630
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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