A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691128



Internal ID21717449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:19234130..19234130hg38UCSC Ensembl
chr3:19275622..19275622hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17209548, nssv17213553
Samples
Known GenesKCNH8
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)nsv5691128
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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