A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588504



Internal ID16375913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22558041..22558581hg38UCSC Ensembl
Innerchr22:22900460..22901000hg19UCSC Ensembl
Innerchr22:21230460..21231000hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38541
hg19541
hg18541
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8022n54
Supporting Variantsnssv952228, nssv952229, nssv952226, nssv952227
Samples
Known GenesPRAME
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588504
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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