A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721528



Internal ID21747849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:41468941..41468941hg38UCSC Ensembl
chr13:42043077..42043077hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17233470, nssv17250444
Samples
Known GenesRGCC
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)nsv5721528
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer