A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280526



Internal ID22269447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:30772298..30781568hg38UCSC Ensembl
Outerchr8:30629814..30639084hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38797
hg19797
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228809
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280526
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