A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219506



Internal ID22364512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:81925596..81986115hg38UCSC Ensembl
Outerchr3:81974747..82035266hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg385466
hg195466
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272151, nssv14272152, nssv14272153
SamplesNA19238, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219506
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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