A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8022n54



Internal ID22775917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22557990..22558636hg38UCSC Ensembl
chr22:22900409..22901055hg19UCSC Ensembl
chr22:21230409..21231055hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38647
hg19647
hg18647
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588503, nsv588505, nsv588507, nsv588506, nsv588504
Samples
Known GenesPRAME
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8022n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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