A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240328



Internal ID21687837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:95531704..95531704hg38UCSC Ensembl
chr5:94867408..94867408hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720011
Supporting Variants
Samples
Known GenesTTC37
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)nssv17240328
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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