A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5679941



Internal ID21706262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62244096..62244096hg38UCSC Ensembl
chr1:62709768..62709768hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17204610
Samples
Known GenesKANK4
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)nsv5679941
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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