A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247311



Internal ID21694820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78760990..78760990hg38UCSC Ensembl
chr13:79335125..79335125hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg386012
hg196012
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728840
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)nssv17247311
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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