A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3853n152



Internal ID22819556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:50449631..50456821hg38UCSC Ensembl
chr18:47976001..47983191hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg387191
hg197191
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3246607, nsv3241579
SamplesNA19240, 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)dgv3853n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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