A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228238



Internal ID22370490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1642182..1646827hg38UCSC Ensembl
Outerchr5:1642297..1646942hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38799
hg19799
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275191, nssv14275192
SamplesNA19239, HG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228238
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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