A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280892



Internal ID22290279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:18000604..18002987hg38UCSC Ensembl
Outerchr8:17858113..17860496hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg382384
hg192384
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216842
Supporting Variants
SamplesNA19240
Known GenesPCM1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280892
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