A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239064



Internal ID22374319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:100057581..100066753hg38UCSC Ensembl
Outerchr13:100709835..100719007hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg382438
hg192438
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2400n152
Supporting Variantsnssv14257577, nssv14257576, nssv14257572, nssv14257575, nssv14257574, nssv14257573, nssv14257571
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239064
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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