A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5687405



Internal ID21713726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:25932638..25932638hg38UCSC Ensembl
chr1:26259129..26259129hg19UCSC Ensembl
Cytoband1p36.11
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 Variantsnssv17189284, nssv17205717
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)nsv5687405
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