A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8048n54



Internal ID22775943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23683794..23685067hg38UCSC Ensembl
chr22:24025981..24027254hg19UCSC Ensembl
chr22:22355981..22357254hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381274
hg191274
hg181274
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588635, nsv588643, nsv588639, nsv588642
Samples
Known GenesGUSBP11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8048n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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