A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247103



Internal ID21694612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40132680..40132680hg38UCSC Ensembl
chr13:40706817..40706817hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38777
hg19777
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720161
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)nssv17247103
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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