A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218988



Internal ID22364151
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14301516, nssv14301515, nssv14301517, nssv14301520, nssv14301518, nssv14301522, nssv14301523, nssv14301519, nssv14301521
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218988
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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