A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243141



Internal ID22375483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:26449991..26487268hg38UCSC Ensembl
Outerchr13:27024128..27061405hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg381120
hg191120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2188n152
Supporting Variantsnssv14257338, nssv14257339, nssv14257337
SamplesHG00512, HG00731, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243141
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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