A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17184872



Internal ID21632381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:98598650..98598650hg38UCSC Ensembl
chr8:99610878..99610878hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5707900
Supporting Variants
Samples
Known GenesSTK3
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)nssv17184872
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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