A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704663



Internal ID21730984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:26746597..26746597hg38UCSC Ensembl
chr15:26991744..26991744hg19UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17219108, nssv17196027
Samples
Known GenesGABRB3
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)nsv5704663
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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