A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720515



Internal ID21746836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:16417453..16417453hg38UCSC Ensembl
chr6:16417684..16417684hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241677, nssv17235665
Samples
Known GenesATXN1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5720515
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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