A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725568



Internal ID21751889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:69299754..69299754hg38UCSC Ensembl
chr9:71914670..71914670hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg381316
hg191316
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234325
Samples
Known GenesBANCR
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)nsv5725568
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