A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206921



Internal ID22355394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:120030510..120057558hg38UCSC Ensembl
Outerchr5:119366205..119393253hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3827049
hg1927049
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272654, nssv14272652, nssv14272657, nssv14272653, nssv14272655, nssv14272656, nssv14272658
SamplesHG00512, NA19238, NA19239, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206921
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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