A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240147



Internal ID21687656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:10747338..10747338hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg383545
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5723355
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)nssv17240147
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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