A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232147



Internal ID22372434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:111422040..111438344hg38UCSC Ensembl
Outerchr13:112074387..112090691hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381051
hg191051
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257363, nssv14257365, nssv14257364
SamplesHG00512, HG00731, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232147
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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