A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276771



Internal ID22198710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:76800811..76872141hg38UCSC Ensembl
Outerchr6:77510528..77581858hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3871331
hg1971331
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195262
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276771
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