A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191453



Internal ID22342157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:152074118..152091698hg38UCSC Ensembl
Outerchr5:151453679..151471259hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3817581
hg1917581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272714, nssv14272713, nssv14272720, nssv14272715, nssv14272719, nssv14272717, nssv14272718, nssv14272716
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191453
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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