A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276363



Internal ID22230353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:152018250..152086127hg38UCSC Ensembl
Outerchr5:151397811..151465688hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3841897
hg1941897
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210955
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276363
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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