A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232251



Internal ID22372455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:27061915..27066359hg38UCSC Ensembl
Outerchr13:27636052..27640496hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg385035
hg195035
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2189n152
Supporting Variantsnssv14257405, nssv14257404
SamplesHG00731, HG00733
Known GenesUSP12
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232251
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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