A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719002



Internal ID21745323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44777641..44777641hg38UCSC Ensembl
chr21:46197556..46197556hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381314
hg191314
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236792
Samples
Known GenesUBE2G2
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)nsv5719002
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