A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272755



Internal ID22131789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:146538131..146613572hg38UCSC Ensembl
Outerchr4:147459283..147534724hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg3875442
hg1975442
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201643
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272755
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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