A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588391



Internal ID16029114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22213371..22381922hg38UCSC Ensembl
Innerchr22:22567762..22736291hg19UCSC Ensembl
Innerchr22:20897762..21066291hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38168552
hg19168530
hg18168530
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151505
SamplesHGDP00818
Known GenesBMS1P20, VPREB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588391
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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