A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682456



Internal ID21708777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:134171469..134171469hg38UCSC Ensembl
chr6:134492607..134492607hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17181913
Samples
Known GenesSGK1
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)nsv5682456
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