A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5687834



Internal ID21714155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43393704..43393704hg38UCSC Ensembl
chr5:43393806..43393806hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17176085, nssv17212890
Samples
Known GenesCCL28
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)nsv5687834
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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