A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5535n152



Internal ID22821238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40440327..40440610hg38UCSC Ensembl
chr21:41812254..41812537hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3193572, nsv3201683
SamplesNA19240, HG00733, HG00514
Known GenesDSCAM
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5535n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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