A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233486



Internal ID22372771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132222057..132264702hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg381966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256276, nssv14256277, nssv14256278
SamplesNA19238, NA19239, HG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233486
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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