A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14368485



Internal ID22136904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:58739645..58739645hg38UCSC Ensembl
chr1:59205317..59205317hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561704
Supporting Variants
SamplesHG00513
Known Genes
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)nssv14368485
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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