A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8014n54



Internal ID22775909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22438063..22601683hg38UCSC Ensembl
chr22:22792400..22944153hg19UCSC Ensembl
chr22:21122400..21274153hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38163621
hg19151754
hg18151754
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588462, nsv588466
SamplesNINDS_203
Known GenesLOC648691, PRAME, ZNF280A, ZNF280B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8014n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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