A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229325



Internal ID22371209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:157746815..157805808hg38UCSC Ensembl
Outerchr5:157173823..157232816hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg382889
hg192889
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276915, nssv14276920, nssv14276917, nssv14276922, nssv14276919, nssv14276921, nssv14276914, nssv14276918, nssv14276916
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCLINT1, LSM11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229325
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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