A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721891



Internal ID21748212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:83699043..83699043hg38UCSC Ensembl
chr9:86313958..86313958hg19UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg38413
hg19413
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252151
Samples
Known GenesUBQLN1
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)nsv5721891
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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