A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5195n152



Internal ID22820898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:19678278..19678424hg38UCSC Ensembl
chr20:19658922..19659068hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3273181, nsv3273401
SamplesNA19240, HG00733
Known GenesSLC24A3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5195n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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