A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239789



Internal ID22374528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:38986945..39005337hg38UCSC Ensembl
Outerchr13:39561082..39579474hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38718
hg19718
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257390
SamplesHG00513
Known GenesSTOML3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239789
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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