A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5705294



Internal ID21731615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:115934794..115934794hg38UCSC Ensembl
chr8:116947019..116947019hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17185880, nssv17220495
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)nsv5705294
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