A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244018



Internal ID22375742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:63283682..63311499hg38UCSC Ensembl
Outerchr12:63677462..63705279hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38683
hg19683
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1880n152
Supporting Variantsnssv14255926, nssv14255924, nssv14255925
SamplesHG00512, NA19239, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244018
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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