A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv951862



Internal ID16245818
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 StatusS
Merged Variantsnsv588231
Supporting Variants
Samples
Known GenesTBX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv951862
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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