A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5711211



Internal ID21737532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88798658..88798658hg38UCSC Ensembl
chr12:89192435..89192435hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17218968, nssv17193045
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)nsv5711211
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