A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213205



Internal ID22360221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:178042875..178048162hg38UCSC Ensembl
Outerchr5:177469876..177475163hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg382822
hg192822
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276356, nssv14276355
SamplesHG00732, HG00733
Known GenesFAM153C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213205
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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