A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14346335



Internal ID22310292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:76836368..76836368hg38UCSC Ensembl
chr9:79451284..79451284hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3565544
Supporting Variants
SamplesNA19240
Known GenesPRUNE2
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)nssv14346335
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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