A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691429



Internal ID21717750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65257128..65257128hg38UCSC Ensembl
chr1:65722811..65722811hg19UCSC Ensembl
Cytoband1p31.3
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 Variantsnssv17225876, nssv17205776
Samples
Known Genes
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)nsv5691429
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer