A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17249087



Internal ID21696596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48161118..48161118hg38UCSC Ensembl
chr13:48735254..48735254hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5724283
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)nssv17249087
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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