A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215311



Internal ID22361686
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2249n152
Supporting Variantsnssv14257079, nssv14257078, nssv14257082, nssv14257081, nssv14257080
SamplesNA19238, HG00731, HG00732, NA19240, HG00733
Known GenesTPT1-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215311
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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