A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588327



Internal ID16029050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21957920..22208677hg38UCSC Ensembl
Innerchr22:22312292..22563068hg19UCSC Ensembl
Innerchr22:20642292..20893068hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38250758
hg19250777
hg18250777
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7997n54
Supporting Variantsnssv951978
Samples
Known GenesTOP3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588327
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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