A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708113



Internal ID21734434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:26759740..26759740hg38UCSC Ensembl
chr15:27004887..27004887hg19UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17218003, nssv17196028
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)nsv5708113
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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