A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588328



Internal ID16029051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21958418..22219245hg38UCSC Ensembl
Innerchr22:22312790..22573637hg19UCSC Ensembl
Innerchr22:20642790..20903637hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38260828
hg19260848
hg18260848
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7998n54
Supporting Variantsnssv951979
Samples
Known GenesTOP3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588328
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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