A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17246331



Internal ID21693840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:85747156..85747156hg38UCSC Ensembl
chr11:85458199..85458199hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726478
Supporting Variants
Samples
Known GenesSYTL2
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)nssv17246331
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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