A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221299



Internal ID22365729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:17796483..17815331hg38UCSC Ensembl
Outerchr5:17796592..17815440hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38674
hg19674
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275926, nssv14275927, nssv14275928
SamplesHG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221299
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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