A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5679278



Internal ID21705599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:214046225..214046225hg38UCSC Ensembl
chr1:214219568..214219568hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17207759, nssv17189285
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)nsv5679278
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