A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716372



Internal ID21742693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:9098759..9098759hg38UCSC Ensembl
chr16:9192616..9192616hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38403
hg19403
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248970
Samples
Known GenesC16orf72
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5716372
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