A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588234



Internal ID16375643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19756117..19770876hg38UCSC Ensembl
Innerchr22:19743640..19758399hg19UCSC Ensembl
Innerchr22:18123640..18138399hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3814760
hg1914760
hg1814760
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7982n54
Supporting Variantsnssv951865
Samples
Known GenesTBX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588234
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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