A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708340



Internal ID21734661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64893689..64893689hg38UCSC Ensembl
chr12:65287469..65287469hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17232647, nssv17192563
Samples
Known GenesFLJ41278
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)nsv5708340
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