A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214267



Internal ID22360966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:107253692..107273834hg38UCSC Ensembl
Outerchr9:110015973..110036115hg19UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg3820143
hg1920143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281948, nssv14281949, nssv14281947, nssv14281946
SamplesNA19239, HG00731, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214267
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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