A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685234



Internal ID21711555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131403567..131403567hg38UCSC Ensembl
chr5:130739260..130739260hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17178981, nssv17217395
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)nsv5685234
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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