A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279057



Internal ID22184552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:37192864..37217336hg38UCSC Ensembl
Outerchr8:37050382..37074854hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg3824473
hg1924473
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212394
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279057
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