A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281027



Internal ID22186059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142917258..142960626hg38UCSC Ensembl
Outerchr8:143998674..144042043hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38683
hg19683
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246794
Supporting Variants
SamplesHG00731
Known GenesCYP11B2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281027
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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