A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588236



Internal ID16375645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19760658..19761382hg38UCSC Ensembl
Innerchr22:19748181..19748905hg19UCSC Ensembl
Innerchr22:18128181..18128905hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38725
hg19725
hg18725
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv951867
Samples
Known GenesTBX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588236
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer