A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5688267



Internal ID21714588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:63885478..63885478hg38UCSC Ensembl
chr3:63871154..63871154hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17214539
Samples
Known GenesATXN7
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)nsv5688267
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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