A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5705561



Internal ID21731882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132128607..132128607hg38UCSC Ensembl
chr8:133140854..133140854hg19UCSC Ensembl
Cytoband8q24.22
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 Variantsnssv17231294, nssv17185629
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)nsv5705561
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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