A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245486



Internal ID22376156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:103635640..103660440hg38UCSC Ensembl
Outerchr13:104287990..104312790hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg381034
hg191034
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257740, nssv14257744, nssv14257741, nssv14257739, nssv14257742, nssv14257743, nssv14257738, nssv14257746, nssv14257745
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)nsv3245486
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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