A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5679970



Internal ID21706291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47339371..47339371hg38UCSC Ensembl
chr1:47805043..47805043hg19UCSC Ensembl
Cytoband1p33
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 Variantsnssv17213821
Samples
Known GenesCMPK1
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)nsv5679970
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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