A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5686871



Internal ID21713192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130848811..130848811hg38UCSC Ensembl
chr6:131169951..131169951hg19UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17179708
Samples
Known GenesEPB41L2
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)nsv5686871
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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