A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17241221



Internal ID21688730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:22669789..22669789hg38UCSC Ensembl
chr6:22670018..22670018hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg386014
hg196014
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5725404
Supporting Variants
Samples
Known Genes
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)nssv17241221
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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