A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222056



Internal ID22366254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:69677726..69712838hg38UCSC Ensembl
Outerchr9:72292642..72327754hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg3835113
hg1935113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281924
SamplesNA19239
Known GenesPTAR1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222056
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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