A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694634



Internal ID21720955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48686252..48686252hg38UCSC Ensembl
chr8:49598812..49598812hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17184659
Samples
Known GenesLOC101929268
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)nsv5694634
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