A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239930



Internal ID22374565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:100055801..100066753hg38UCSC Ensembl
Outerchr13:100708055..100719007hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg381726
hg191726
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2400n152
Supporting Variantsnssv14257718, nssv14257719, nssv14257717
SamplesNA19238, NA19239, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239930
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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