A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719062



Internal ID21745383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:96385858..96385858hg38UCSC Ensembl
chr13:97038112..97038112hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251534
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)nsv5719062
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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