A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2078n152



Internal ID22817781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129811645..129868059hg38UCSC Ensembl
chr12:130296190..130352604hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3856415
hg1956415
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3234958, nsv3239785
SamplesNA19238, HG00731, HG00513
Known GenesTMEM132D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2078n152
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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