A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5594659



Internal ID21543259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:38510613..38510925hg38UCSC Ensembl
chr20:37139256..37139568hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17116641
SamplesNA19238
Known GenesRALGAPB
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5594659
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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