A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201181



Internal ID22350524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:114719931..114721899hg38UCSC Ensembl
chr3:114438778..114440746hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg381969
hg191969
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14308542, nssv14308535, nssv14308540, nssv14308541, nssv14308539, nssv14308538, nssv14308536, nssv14308537, nssv14308543
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesZBTB20
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201181
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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