A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5686631



Internal ID21712952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:5279686..5279686hg38UCSC Ensembl
chr5:5279799..5279799hg19UCSC Ensembl
Cytoband5p15.32
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 Variantsnssv17175272, nssv17212828
Samples
Known GenesADAMTS16
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)nsv5686631
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