A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244913



Internal ID22375991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:130744405..130786464hg38UCSC Ensembl
Outerchr12:131228950..131271009hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38889
hg19889
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256242, nssv14256244, nssv14256245, nssv14256243
SamplesHG00512, NA19238, HG00731, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244913
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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