A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230746



Internal ID22372018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:33464066..33533959hg38UCSC Ensembl
Outerchr21:34836373..34906265hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg388854
hg198854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268156, nssv14268158, nssv14268151, nssv14268154, nssv14268152, nssv14268157, nssv14268159, nssv14268155, nssv14268153
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDNAJC28, GART, TMEM50B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230746
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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