A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213267



Internal ID22360267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:84544006..84551832hg38UCSC Ensembl
Outerchr3:84593157..84600983hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg381145
hg191145
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272166, nssv14272164, nssv14272165, nssv14272162, nssv14272167, nssv14272163
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213267
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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