A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697944



Internal ID21724265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:101143108..101143108hg38UCSC Ensembl
chr11:101013839..101013839hg19UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17191480
Samples
Known GenesLOC101054525
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)nsv5697944
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