A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14368543



Internal ID22129346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:53328576..53328639hg38UCSC Ensembl
chr13:53902711..53902774hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223801
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14368543
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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