A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589224



Internal ID16029947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50589773..50639823hg38UCSC Ensembl
Innerchr22:51028202..51078251hg19UCSC Ensembl
Innerchr22:49375068..49425117hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3850051
hg1950050
hg1850050
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv957542
Samples
Known GenesARSA, MAPK8IP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589224
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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