A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14366919



Internal ID22135572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:79392113..79392185hg38UCSC Ensembl
chr13:79966248..79966320hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223488
Supporting Variants
SamplesHG00513
Known GenesRBM26
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14366919
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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