A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2249n152



Internal ID22817952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45363436..45384109hg38UCSC Ensembl
chr13:45937571..45958244hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3820674
hg1920674
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3215311, nsv3218268
SamplesNA19238, HG00731, HG00732, NA19240, HG00733, HG00513
Known GenesTPT1-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2249n152
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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