A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5679154



Internal ID21705475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177553672..177553672hg38UCSC Ensembl
chr2:178418400..178418400hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17228131, nssv17206094
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)nsv5679154
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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