A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588466



Internal ID16375875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22452457..22601683hg38UCSC Ensembl
Innerchr22:22806795..22944153hg19UCSC Ensembl
Innerchr22:21136795..21274153hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38149227
hg19137359
hg18137359
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8014n54
Supporting Variantsnssv952034
Samples
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)nsv588466
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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