A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257080



Internal ID22221231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:45366730..45384109hg38UCSC Ensembl
Outerchr13:45940865..45958244hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3817380
hg1917380
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215311
Supporting Variants
SamplesHG00733
Known GenesTPT1-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257080
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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