A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722327



Internal ID21748648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80448535..80448535hg38UCSC Ensembl
chr5:79744354..79744354hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg381236
hg191236
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247707
Samples
Known GenesZFYVE16
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)nsv5722327
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