A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255855



Internal ID22220836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:46958344..46985268hg38UCSC Ensembl
Outerchr12:47352127..47379051hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381384
hg191384
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245211
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255855
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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