A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274499



Internal ID22297806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:62880965..62934947hg38UCSC Ensembl
Outerchr4:63746683..63800665hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3853983
hg1953983
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201750
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274499
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