A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17221815



Internal ID21669324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:13953700..13953700hg38UCSC Ensembl
chr16:14047557..14047557hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5707231
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)nssv17221815
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