A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14366948



Internal ID22203994
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3529143
Supporting Variants
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14366948
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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