A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239641



Internal ID22374475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:80399472..80423181hg38UCSC Ensembl
Outerchr13:80973607..80997316hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38694
hg19694
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257660, nssv14257659, nssv14257661, nssv14257662
SamplesNA19238, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239641
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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