A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728484



Internal ID21754805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49103718..49103718hg38UCSC Ensembl
chr20:47720255..47720255hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38392
hg19392
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245462
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)nsv5728484
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