A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213564



Internal ID22360472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:9855838..9859914hg38UCSC Ensembl
chr4_gl000193_random:123152..127228hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg384077
hg194077
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14299284, nssv14299289, nssv14299291, nssv14299285, nssv14299288, nssv14299290, nssv14299287, nssv14299283, nssv14299286
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)nsv3213564
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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