A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14323094



Internal ID22292014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:64561876..64561876hg38UCSC Ensembl
chr5:63857703..63857703hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38231
hg19231
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564023
Supporting Variants
SamplesNA19240
Known GenesRGS7BP
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)nssv14323094
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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