A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17233334



Internal ID21680843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:26633216..26633216hg38UCSC Ensembl
chr13:27207353..27207353hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg383266
hg193266
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5716349
Supporting Variants
Samples
Known GenesWASF3
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)nssv17233334
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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