A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192825



Internal ID22343357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:105984408..106039388hg38UCSC Ensembl
Outerchr5:105320109..105375089hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3854981
hg1954981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273613
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192825
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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