A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214612



Internal ID22361217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:45372376..45383983hg38UCSC Ensembl
Outerchr13:45946511..45958118hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3811608
hg1911608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256909, nssv14256908
SamplesNA19240, HG00733
Known GenesTPT1-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214612
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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