A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17241677



Internal ID21689186
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 StatusS
Merged Variantsnsv5720515
Supporting Variants
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)nssv17241677
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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