A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588233



Internal ID16375642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19750832..19770705hg38UCSC Ensembl
Innerchr22:19738355..19758228hg19UCSC Ensembl
Innerchr22:18118355..18138228hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3819874
hg1919874
hg1819874
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7982n54
Supporting Variantsnssv951864
Samples
Known GenesTBX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588233
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