A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239627



Internal ID22374470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:123345314..123355212hg38UCSC Ensembl
Outerchr9:126107593..126117491hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38596
hg19596
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14289601, nssv14289599, nssv14289600
SamplesNA19238, NA19239, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239627
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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