A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14299183



Internal ID22129891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:9002886..9003210hg38UCSC Ensembl
chr21:9841719..9842043hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523035
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYA5 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14299183
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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