A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17242227



Internal ID21689736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:16492569..16492569hg38UCSC Ensembl
chr6:16492800..16492800hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728723
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)nssv17242227
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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