A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224248



Internal ID22367736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:86843034..86899003hg38UCSC Ensembl
Outerchr3:86892184..86948153hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg382201
hg192201
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272182, nssv14272181, nssv14272180
SamplesHG00512, NA19238, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224248
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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