A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17250794



Internal ID21698303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:50768182..50768182hg38UCSC Ensembl
chr16:50802093..50802093hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38923
hg19923
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5723939
Supporting Variants
Samples
Known GenesCYLD
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)nssv17250794
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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