A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588888



Internal ID16376297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:30816654..30853346hg38UCSC Ensembl
Innerchr22:31212641..31249333hg19UCSC Ensembl
Innerchr22:29542641..29579333hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3836693
hg1936693
hg1836693
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv954562
Samples
Known GenesOSBP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588888
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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