A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721130



Internal ID21747451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:37993308..37993308hg38UCSC Ensembl
chr13:38567445..38567445hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38228
hg19228
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245929, nssv17240662
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)nsv5721130
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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