A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14307068



Internal ID22280381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81292164..81292242hg38UCSC Ensembl
chr3:81341315..81341393hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526453
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14307068
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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