A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714684



Internal ID21741005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129479928..129479928hg38UCSC Ensembl
chr6:129801073..129801073hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244390, nssv17245291
Samples
Known GenesLAMA2
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)nsv5714684
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