A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196289



Internal ID22346328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:147970664..148048402hg38UCSC Ensembl
Outerchr5:147350227..147427965hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3877739
hg1977739
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273695, nssv14273694
SamplesHG00731, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196289
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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