A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239587



Internal ID21687096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103615552..103615552hg38UCSC Ensembl
chr14:104081889..104081889hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5729990
Supporting Variants
Samples
Known Genes
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)nssv17239587
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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