A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224668



Internal ID22368027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:9943772..9953830hg38UCSC Ensembl
chr21:10421800..10431858hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3810059
hg1910059
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14299323, nssv14299330, nssv14299325, nssv14299324, nssv14299326, nssv14299328, nssv14299327, nssv14299331, nssv14299329
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)nsv3224668
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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