A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5589623



Internal ID21538188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50156237..50156553hg38UCSC Ensembl
chr20:48772774..48773090hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17116792
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5589623
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer