A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5567067



Internal ID21515398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223608382..223608615hg38UCSC Ensembl
chr2:224473100..224473333hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17111326
SamplesHG03371
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5567067
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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