A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230321



Internal ID22371880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:11373967..11390479hg38UCSC Ensembl
Outerchr8:11231476..11247988hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3816513
hg1916513
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280877, nssv14280875, nssv14280874, nssv14280876, nssv14280878
SamplesNA19238, NA19239, HG00731, NA19240, HG00733
Known GenesC8orf12
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230321
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer