A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704793



Internal ID21731114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:89167773..89167773hg38UCSC Ensembl
chr15:89711004..89711004hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17197898, nssv17219296
Samples
Known GenesABHD2
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)nsv5704793
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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