A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17246517



Internal ID21694026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30983533..30983533hg38UCSC Ensembl
chr13:31557670..31557670hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg381478
hg191478
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5721330
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)nssv17246517
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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