A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273581



Internal ID22141621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:16856046..16879885hg38UCSC Ensembl
Outerchr5:16856155..16879994hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3823840
hg1923840
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191838
Supporting Variants
SamplesHG00513
Known GenesMYO10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273581
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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