A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691361



Internal ID21717682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153564854..153564854hg38UCSC Ensembl
chr1:153537330..153537330hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17180175
Samples
Known GenesS100A2
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)nsv5691361
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