A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680893



Internal ID21707214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:172945302..172945302hg38UCSC Ensembl
chr3:172663092..172663092hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17232356
Samples
Known GenesSPATA16
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)nsv5680893
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