A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272780



Internal ID22152590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:159745327..159779343hg38UCSC Ensembl
Outerchr4:160666479..160700495hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg3834017
hg1934017
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200529
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272780
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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