A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690950



Internal ID21717271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:25772333..25772333hg38UCSC Ensembl
chr4:25773955..25773955hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17211797
Samples
Known GenesSEL1L3
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)nsv5690950
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