A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588347



Internal ID16029070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21982115..22225921hg38UCSC Ensembl
Innerchr22:22336512..22580314hg19UCSC Ensembl
Innerchr22:20666512..20910314hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38243807
hg19243803
hg18243803
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7997n54
Supporting Variantsnssv952011
Samples
Known GenesTOP3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588347
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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