A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239216



Internal ID22374369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:89661809..89687954hg38UCSC Ensembl
Outerchr9:92276724..92302869hg19UCSC Ensembl
Cytoband9q22.2
Allele length
AssemblyAllele length
hg38909
hg19909
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14283563, nssv14283567, nssv14283565, nssv14283566, nssv14283568, nssv14283564, nssv14283562
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00513
Known GenesUNQ6494
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239216
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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