A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245502



Internal ID22376164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:108450674..108482153hg38UCSC Ensembl
Outerchr13:109103022..109134501hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg38942
hg19942
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257397, nssv14257398
SamplesHG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245502
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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