A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17216263



Internal ID21663772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110083517..110083517hg38UCSC Ensembl
chr13:110735864..110735864hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5694832
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)nssv17216263
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