A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589088



Internal ID16376497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43209517..43227966hg38UCSC Ensembl
Innerchr22:43605523..43623972hg19UCSC Ensembl
Innerchr22:41935467..41953916hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3818450
hg1918450
hg1818450
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv957174
Samples
Known GenesSCUBE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589088
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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