A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212158



Internal ID22359494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:69157984..69226265hg38UCSC Ensembl
Outerchr5:68453811..68522092hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg383186
hg193186
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276187, nssv14276188, nssv14276189, nssv14276184, nssv14276190, nssv14276191, nssv14276185, nssv14276186
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCCNB1, CENPH, MRPS36
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212158
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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