A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588246



Internal ID16028969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20052344..20069620hg38UCSC Ensembl
Innerchr22:20039867..20057143hg19UCSC Ensembl
Innerchr22:18419867..18437143hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3817277
hg1917277
hg1817277
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv951879
Samples
Known GenesTANGO2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588246
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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