A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280330



Internal ID22185309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:42504761..42539868hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3835108
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224064
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280330
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