A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230883



Internal ID22372060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:73169654..73191709hg38UCSC Ensembl
Outerchr12:73563434..73585489hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg382170
hg192170
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255934, nssv14255936, nssv14255935, nssv14255933
SamplesNA19239, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230883
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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