A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17233536



Internal ID21681045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:78819456..78819456hg38UCSC Ensembl
chr11:78530501..78530501hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5724249
Supporting Variants
Samples
Known GenesTENM4
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)nssv17233536
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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