A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215225



Internal ID22361627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44153501..44160569hg38UCSC Ensembl
chr20:42782141..42789209hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg387069
hg197069
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14301474, nssv14301468, nssv14301476, nssv14301471, nssv14301473, nssv14301475, nssv14301470, nssv14301469, nssv14301472
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesJPH2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215225
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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