A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273753



Internal ID22264169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:170139036..170153899hg38UCSC Ensembl
Outerchr4:171060187..171075050hg19UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg3814864
hg1914864
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191338
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273753
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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