A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17185088



Internal ID21632597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:108244619..108244619hg38UCSC Ensembl
chr8:109256848..109256848hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5701151
Supporting Variants
Samples
Known GenesEIF3E
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)nssv17185088
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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