A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270362



Internal ID22303699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:17481337..17513113hg38UCSC Ensembl
Outerchr3:17522829..17554605hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3831777
hg1931777
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206538
Supporting Variants
SamplesNA19240
Known GenesTBC1D5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270362
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer