A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223867



Internal ID22367502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:103695138..103755872hg38UCSC Ensembl
Outerchr3:103413982..103474716hg19UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg381411
hg191411
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272514, nssv14272515, nssv14272516, nssv14272513
SamplesHG00512, HG00731, HG00732, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223867
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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