A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274372



Internal ID22278439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:40633687..40635776hg38UCSC Ensembl
Outerchr4:40635704..40637793hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg382090
hg192090
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201642
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274372
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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