A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3525590



Internal ID22394968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146716195..146716353hg38UCSC Ensembl
chr5:146095758..146095916hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14323574, nssv14323575
SamplesNA19238, NA19240
Known GenesPPP2R2B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3525590
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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