A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233902



Internal ID22372870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:101492729..101507582hg38UCSC Ensembl
Outerchr9:104255011..104269864hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg381578
hg191578
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281390, nssv14281392, nssv14281391
SamplesHG00512, NA19239, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233902
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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