A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243490



Internal ID22375585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:65799201..65861624hg38UCSC Ensembl
Outerchr9:42779788..42842202hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg382340
hg192340
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9574n152
Supporting Variantsnssv14283038, nssv14283035, nssv14283036, nssv14283037
SamplesHG00512, NA19238, HG00731, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243490
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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