A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219277



Internal ID22364346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:103391638..103409945hg38UCSC Ensembl
Outerchr3:103110482..103128789hg19UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg383720
hg193720
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272232, nssv14272233, nssv14272235, nssv14272234
SamplesHG00512, NA19238, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219277
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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