A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222022



Internal ID22366225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:36354223..36365554hg38UCSC Ensembl
Outerchr9:36354220..36365551hg19UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg3811332
hg1911332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282779, nssv14282780, nssv14282778
SamplesHG00512, HG00731, HG00513
Known GenesRNF38
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222022
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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