A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239982



Internal ID22374576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:135083511..135131569hg38UCSC Ensembl
Outerchr9:137975357..138023415hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381487
hg191487
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280717, nssv14280721, nssv14280715, nssv14280722, nssv14280720, nssv14280719, nssv14280718, nssv14280716
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known GenesOLFM1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239982
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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