A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5702123



Internal ID21728444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92327332..92327332hg38UCSC Ensembl
chr12:92721108..92721108hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17193271, nssv17214596
Samples
Known Genes
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)nsv5702123
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