A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5686720



Internal ID21713041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:34647590..34647590hg38UCSC Ensembl
chr5:34647695..34647695hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17176935, nssv17212148
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)nsv5686720
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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