A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5594926



Internal ID21543527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:19248672..19251475hg38UCSC Ensembl
chr20:19229316..19232119hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg382804
hg192804
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17116058
SamplesHG00512
Known GenesLOC100130264, SLC24A3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5594926
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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