A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5676085



Internal ID21702406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179863677..179863677hg38UCSC Ensembl
chr1:179832812..179832812hg19UCSC Ensembl
Cytoband1q25.2
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 Variantsnssv17206316, nssv17184278
Samples
Known GenesTOR1AIP2
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)nsv5676085
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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