A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238749



Internal ID22374246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:106781964..106792535hg38UCSC Ensembl
Outerchr13:107434312..107444883hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg385913
hg195913
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257760, nssv14257763, nssv14257762, nssv14257758, nssv14257761, nssv14257756, nssv14257759, nssv14257757
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238749
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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