A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5705332



Internal ID21731653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80343536..80343536hg38UCSC Ensembl
chr12:80737316..80737316hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17193209, nssv17231863
Samples
Known GenesOTOGL
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)nsv5705332
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