A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5696811



Internal ID21723132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:27162007..27162007hg38UCSC Ensembl
chr15:27407154..27407154hg19UCSC Ensembl
Cytoband15q12
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 Variantsnssv17196035, nssv17220585
Samples
Known GenesGABRG3
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)nsv5696811
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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