A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3529143



Internal ID22398536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:79801160..79801301hg38UCSC Ensembl
chr13:80375295..80375436hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14366952, nssv14366947, nssv14366951, nssv14366946, nssv14366948, nssv14366950, nssv14366949, nssv14366945
SamplesNA19238, 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)nsv3529143
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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