A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226179



Internal ID22369071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:34716848..34718903hg38UCSC Ensembl
chr20:33304652..33306707hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg382056
hg192056
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14299920, nssv14299912, nssv14299913, nssv14299915, nssv14299918, nssv14299917, nssv14299919, nssv14299916, nssv14299914
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesNCOA6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226179
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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