A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207431



Internal ID22355821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189824112..189825678hg38UCSC Ensembl
chr2:190688838..190690404hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg381567
hg191567
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14295292, nssv14295291, nssv14295289, nssv14295288, nssv14295290, nssv14295284, nssv14295287, nssv14295286, nssv14295285
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPMS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207431
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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