A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273590



Internal ID22132037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:52512642..52534895hg38UCSC Ensembl
Outerchr5:51808476..51830729hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3822254
hg1922254
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207018
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273590
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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