A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17192479



Internal ID21639988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45882932..45882932hg38UCSC Ensembl
chr12:46276715..46276715hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5703475
Supporting Variants
Samples
Known GenesARID2
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)nssv17192479
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