A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589130



Internal ID16376539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:45684972..45739053hg38UCSC Ensembl
Innerchr22:46080852..46134933hg19UCSC Ensembl
Innerchr22:44459516..44513597hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3854082
hg1954082
hg1854082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv957216
Samples
Known GenesATXN10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589130
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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