A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228395



Internal ID22370591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:3651405..3668750hg38UCSC Ensembl
Outerchr5:3651519..3668864hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381011
hg191011
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275141, nssv14275142, nssv14275144, nssv14275143
SamplesNA19238, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228395
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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