A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5666458



Internal ID21614763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53935648..53935648hg38UCSC Ensembl
chr20:52552187..52552187hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17117059
SamplesNA19239
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5666458
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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