A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236857



Internal ID22373711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:78681933..78695495hg38UCSC Ensembl
Outerchr13:79256068..79269630hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg382010
hg192010
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257652, nssv14257653, nssv14257655, nssv14257654, nssv14257656, nssv14257657, nssv14257650, nssv14257658, nssv14257651
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236857
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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