A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719122



Internal ID21745443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38473496..38473496hg38UCSC Ensembl
chr8:38331014..38331014hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38361
hg19361
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243260
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)nsv5719122
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