A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14295288



Internal ID22202306
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 Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207431
Supporting Variants
SamplesHG00732
Known GenesPMS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14295288
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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