A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272814



Internal ID22193284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:130859991..130917835hg38UCSC Ensembl
Outerchr4:131781146..131838990hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3857845
hg1957845
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198084
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272814
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