A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17246781



Internal ID21694290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:17853382..17853382hg38UCSC Ensembl
chr4:17855005..17855005hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg38836
hg19836
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5729745
Supporting Variants
Samples
Known GenesLCORL
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)nssv17246781
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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