A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17193625



Internal ID21641134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:79651450..79651450hg38UCSC Ensembl
chr13:80225585..80225585hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5694773
Supporting Variants
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)nssv17193625
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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