A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233226



Internal ID22372700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:90081865..90098202hg38UCSC Ensembl
Outerchr12:90475642..90491979hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38687
hg19687
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1941n152
Supporting Variantsnssv14256062
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233226
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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