A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197957



Internal ID22347763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:106071629..106153278hg38UCSC Ensembl
Outerchr5:105407330..105488979hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3881650
hg1981650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273614
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197957
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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