A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230115



Internal ID22371745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:23626826..23644306hg38UCSC Ensembl
Outerchr8:23484339..23501819hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg383005
hg193005
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280523, nssv14280525, nssv14280522, nssv14280524
SamplesNA19239, HG00732, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230115
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