A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208091



Internal ID22356386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1509839..1548190hg38UCSC Ensembl
Outerchr4:1511566..1549917hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3838352
hg1938352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6384n152
Supporting Variantsnssv14273860, nssv14273861, nssv14273859, nssv14275074, nssv14273857, nssv14272286, nssv14273858, nssv14273862
SamplesHG00512, NA19238, NA19239, 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)nsv3208091
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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