A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14343048



Internal ID22268590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109337081..109337081hg38UCSC Ensembl
chr8:110349310..110349310hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564928
Supporting Variants
SamplesNA19238
Known GenesENY2
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)nssv14343048
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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