A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246660



Internal ID22376478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143193282..143250012hg38UCSC Ensembl
Outerchr8:144274699..144332182hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg383857
hg193857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9426n152
Supporting Variantsnssv14279905, nssv14279907, nssv14279906, nssv14279904
SamplesNA19238, NA19240, HG00733, HG00513
Known GenesGPIHBP1, ZFP41
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246660
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