A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274862



Internal ID22294073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:30427091..30497542hg38UCSC Ensembl
Outerchr5:30427198..30497649hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3870452
hg1970452
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202417
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274862
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