A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697070



Internal ID21723391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69086479..69086479hg38UCSC Ensembl
chr8:69998714..69998714hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17184762, nssv17222355
Samples
Known GenesLOC100505718
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)nsv5697070
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