A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588247



Internal ID16028970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20064919..20072240hg38UCSC Ensembl
Innerchr22:20052442..20059763hg19UCSC Ensembl
Innerchr22:18432442..18439763hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg387322
hg197322
hg187322
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv951880
Samples
Known GenesTANGO2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588247
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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