A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220500



Internal ID22365177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:109421808..109425434hg38UCSC Ensembl
chr13:110074155..110077781hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg383627
hg193627
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14368610, nssv14368608, nssv14368609, nssv14368615, nssv14368607, nssv14368612, nssv14368614, nssv14368611, nssv14368613
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220500
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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