A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14342765



Internal ID22142544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:93150259..93150259hg38UCSC Ensembl
chr8:94162488..94162488hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3565271
Supporting Variants
SamplesHG00513
Known GenesC8orf87
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14342765
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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