A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721796



Internal ID21748117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8370236..8370236hg38UCSC Ensembl
chr16:8420238..8420238hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38802
hg19802
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235369
Samples
Known Genes
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)nsv5721796
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