A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719280



Internal ID21745601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:96182584..96182584hg38UCSC Ensembl
chr13:96834838..96834838hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38427
hg19427
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239917
Samples
Known GenesHS6ST3
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)nsv5719280
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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