A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234589



Internal ID22373078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:65751709..65861624hg38UCSC Ensembl
Outerchr9:42732629..42842202hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg383474
hg193474
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281467, nssv14281468
SamplesHG00512, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234589
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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