A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203981



Internal ID22352904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32855876..32856199hg38UCSC Ensembl
chr5:32855982..32856305hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14321264, nssv14321260, nssv14321263, nssv14321262, nssv14321265, nssv14321261
SamplesHG00512, NA19238, NA19239, NA19240, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203981
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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