A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231443



Internal ID22372233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:98603268..98611429hg38UCSC Ensembl
Outerchr13:99255522..99263683hg19UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg381120
hg191120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257564, nssv14257565, nssv14257566, nssv14257570, nssv14257567, nssv14257569, nssv14257568, nssv14257563
SamplesHG00512, 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)nsv3231443
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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