A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682343



Internal ID21708664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:66315047..66315047hg38UCSC Ensembl
chr5:65610875..65610875hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17177755, nssv17210975
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)nsv5682343
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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