A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17202188



Internal ID21649697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45786072..45786072hg38UCSC Ensembl
chr22:46181952..46181952hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5705372
Supporting Variants
Samples
Known GenesATXN10
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17202188
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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