A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278861



Internal ID22134953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:32291038..32314994hg38UCSC Ensembl
Outerchr8:32148554..32172510hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3823957
hg1923957
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221795
Supporting Variants
SamplesHG00513
Known GenesNRG1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278861
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