A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5711495



Internal ID21737816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:78492273..78492273hg38UCSC Ensembl
chr15:78784615..78784615hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17197580, nssv17227067
Samples
Known GenesIREB2
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)nsv5711495
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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