A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5674928



Internal ID21701249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69912293..69912293hg38UCSC Ensembl
chr2:70139425..70139425hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17208021, nssv17206641
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)nsv5674928
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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