A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280376



Internal ID22219793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:61189044..61217404hg38UCSC Ensembl
Outerchr8:62101603..62129963hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg384277
hg194277
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247634
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280376
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