A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697659



Internal ID21723980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:78853069..78853069hg38UCSC Ensembl
chr11:78564114..78564114hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17191774
Samples
Known GenesTENM4
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)nsv5697659
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