A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223594



Internal ID22367313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:74078603..74160123hg38UCSC Ensembl
Outerchr9:76693519..76775039hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg3881521
hg1981521
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281926, nssv14281925
SamplesNA19239, NA19240
Known GenesMIR6130
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223594
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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