A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1862n152



Internal ID22817565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:58075716..58084560hg38UCSC Ensembl
chr12:58469499..58478343hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg388845
hg198845
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3205079, nsv3205428, nsv3192812
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1862n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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