A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280534



Internal ID22185529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:42879457..42888297hg38UCSC Ensembl
Outerchr8:42734600..42743440hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38775
hg19775
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234465
Supporting Variants
SamplesHG00731
Known GenesRNF170
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280534
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