A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229363



Internal ID22371235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:9962886..9972346hg38UCSC Ensembl
Outerchr5:9962998..9972458hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg383310
hg193310
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275705, nssv14275706, nssv14275704
SamplesNA19238, NA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229363
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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