A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273220



Internal ID22230013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:13216468..13237897hg38UCSC Ensembl
Outerchr4:13218092..13239521hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg381849
hg191849
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220766
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273220
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