A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719219



Internal ID21745540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:91099581..91099581hg38UCSC Ensembl
chr14:91565925..91565925hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg38678
hg19678
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241350
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)nsv5719219
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