A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5683634



Internal ID21709955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:152194792..152194792hg38UCSC Ensembl
chr4:153115944..153115944hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17212712, nssv17175716
Samples
Known Genes
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)nsv5683634
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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