A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8049n54



Internal ID22775944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23684135..23685350hg38UCSC Ensembl
chr22:24026322..24027537hg19UCSC Ensembl
chr22:22356322..22357537hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381216
hg191216
hg181216
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588645, nsv588644
Samples
Known GenesGUSBP11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8049n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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