A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273611



Internal ID22136439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:93360032..93371988hg38UCSC Ensembl
Outerchr5:92695738..92707694hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3811957
hg1911957
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192188
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273611
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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