A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694888



Internal ID21721209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118978097..118978097hg38UCSC Ensembl
chr12:119415902..119415902hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17223164, nssv17193998
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)nsv5694888
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