A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272759



Internal ID22133279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:182628207..182641130hg38UCSC Ensembl
Outerchr4:183549360..183562283hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3812924
hg1912924
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198894
Supporting Variants
SamplesHG00513
Known GenesTENM3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272759
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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