A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236135



Internal ID22373495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:19127992..19150444hg38UCSC Ensembl
Outerchr13:19702132..19724584hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg381915
hg191915
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256559, nssv14256562, nssv14256561, nssv14256564, nssv14256565, nssv14256560, nssv14256563
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesRNU6-52P
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236135
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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