A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17216904



Internal ID21664413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70428578..70428578hg38UCSC Ensembl
chr1:70894261..70894261hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5678694
Supporting Variants
Samples
Known GenesCTH
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)nssv17216904
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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