A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255502



Internal ID22144632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:115373269..115382723hg38UCSC Ensembl
Outerchr12:115811074..115820528hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg383285
hg193285
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246568
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255502
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