A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273025



Internal ID22265127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:117504484..117534015hg38UCSC Ensembl
Outerchr4:118425639..118455170hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg3829532
hg1929532
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201837
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273025
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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