A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17233470



Internal ID21680979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:41468941..41468941hg38UCSC Ensembl
chr13:42043077..42043077hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5721528
Supporting Variants
Samples
Known GenesRGCC
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)nssv17233470
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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