A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7999n54



Internal ID19000175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21960091..22178249hg38UCSC Ensembl
chr22:22314463..22532639hg19UCSC Ensembl
chr22:20644463..20862639hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38218159
hg19218177
hg18218177
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588343, nsv588340, nsv588329
Samples
Known GenesTOP3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7999n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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