A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5688496



Internal ID21714817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:159282426..159282426hg38UCSC Ensembl
chr5:158709434..158709434hg19UCSC Ensembl
Cytoband5q33.3
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 Variantsnssv17232298, nssv17179091
Samples
Known GenesUBLCP1
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)nsv5688496
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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