A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257076



Internal ID22132002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:45363436..45383983hg38UCSC Ensembl
Outerchr13:45937571..45958118hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3820548
hg1920548
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218268
Supporting Variants
SamplesHG00513
Known GenesTPT1-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257076
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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