A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255302



Internal ID22269425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:12778474..12805458hg38UCSC Ensembl
Outerchr12:12931408..12958392hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg381762
hg191762
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236137
Supporting Variants
SamplesNA19239
Known GenesAPOLD1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255302
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