A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588231



Internal ID16375640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19743069..19760950hg38UCSC Ensembl
Innerchr22:19730592..19748473hg19UCSC Ensembl
Innerchr22:18110592..18128473hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3817882
hg1917882
hg1817882
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv951862
Samples
Known GenesTBX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588231
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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