A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5677136



Internal ID21703457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:116513385..116513385hg38UCSC Ensembl
chr6:116834548..116834548hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17180158, nssv17230073
Samples
Known GenesFAM26E, TRAPPC3L
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5677136
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