A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17197898



Internal ID21645407
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 StatusS
Merged Variantsnsv5704793
Supporting Variants
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)nssv17197898
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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