A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276355



Internal ID22207208
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213205
Supporting Variants
SamplesHG00732
Known GenesFAM153C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276355
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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