A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17185514



Internal ID21633023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:104430971..104430971hg38UCSC Ensembl
chr8:105443199..105443199hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5711358
Supporting Variants
Samples
Known GenesDPYS
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)nssv17185514
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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