A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728058



Internal ID21754379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:77545311..77545311hg38UCSC Ensembl
chr6:78255028..78255028hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg386010
hg196010
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246185, nssv17246203
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)nsv5728058
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