A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5711512



Internal ID21737833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132467253..132467253hg38UCSC Ensembl
chr8:133479500..133479500hg19UCSC Ensembl
Cytoband8q24.22
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 Variantsnssv17185632
Samples
Known GenesKCNQ3
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)nsv5711512
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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