A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272373



Internal ID22197937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:35198661..35294786hg38UCSC Ensembl
Outerchr4:35200283..35296408hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3896126
hg1996126
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206681
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272373
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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