A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5700045



Internal ID21726366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:114107851..114107851hg38UCSC Ensembl
chr11:113978573..113978573hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17191896
Samples
Known GenesZBTB16
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)nsv5700045
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