A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689448



Internal ID21715769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:18147120..18147120hg38UCSC Ensembl
chr6:18147351..18147351hg19UCSC Ensembl
Cytoband6p22.3
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 Variantsnssv17179254, nssv17225869
Samples
Known GenesTPMT
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)nsv5689448
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