A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262560



Internal ID22263111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:46313156..46320735hg38UCSC Ensembl
Outerchr19:46816413..46823992hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg387580
hg197580
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221016
Supporting Variants
SamplesNA19238
Known GenesHIF3A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262560
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