A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217184



Internal ID22359196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:158437986..158442903hg38UCSC Ensembl
Outerchr5:157864994..157869911hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg384637
hg194637
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276298
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217184
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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