A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17245046



Internal ID21692555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:106661420..106661420hg38UCSC Ensembl
chr13:107313768..107313768hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg382877
hg192877
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5730495
Supporting Variants
Samples
Known GenesLINC00443
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)nssv17245046
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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