A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14301520



Internal ID22220163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:16772620..16775022hg38UCSC Ensembl
chr21:18144939..18147341hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg382403
hg192403
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218988
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14301520
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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