A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5696584



Internal ID21722905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29791456..29791456hg38UCSC Ensembl
chr13:30365593..30365593hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17194435
Samples
Known GenesUBL3
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5696584
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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