A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588503



Internal ID16375912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22557990..22558636hg38UCSC Ensembl
Innerchr22:22900409..22901055hg19UCSC Ensembl
Innerchr22:21230409..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 Variantsdgv8022n54
Supporting Variantsnssv952225, nssv952224
Samples
Known GenesPRAME
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588503
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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