A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235143



Internal ID22373215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132222057..132245934hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg385613
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256503, nssv14256501, nssv14256504, nssv14256502, nssv14256505, nssv14256506
SamplesHG00512, 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)nsv3235143
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer