A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236100



Internal ID22373482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:6283380..6290528hg38UCSC Ensembl
Outerchr9:6283380..6290528hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg38822
hg19822
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282282, nssv14282280, nssv14282285, nssv14282281, nssv14282286, nssv14282283, nssv14282284
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236100
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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