A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263360



Internal ID22185484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:9109245..9117825hg38UCSC Ensembl
Outerchr19:9219921..9228501hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg388581
hg198581
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222745
Supporting Variants
SamplesHG00731
Known GenesOR7G1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263360
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