A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238892



Internal ID22374280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143032677..143096942hg38UCSC Ensembl
Outerchr8:144114094..144178359hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg386075
hg196075
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279900, nssv14279903, nssv14279902, nssv14279901
SamplesHG00512, NA19238, NA19239, HG00513
Known GenesC8orf31
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238892
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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