A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14321263



Internal ID22267699
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203981
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14321263
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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