A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236824



Internal ID22373704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:67651543..67672963hg38UCSC Ensembl
Outerchr9:46310079..46338807hg19UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg387374
hg197374
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281366, nssv14281367, nssv14281365, nssv14281368, nssv14281369
SamplesHG00512, NA19239, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236824
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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