A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5593353



Internal ID21541939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44951878..44952194hg38UCSC Ensembl
chr21:46371793..46372109hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17119398
SamplesHG00732
Known GenesFAM207A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5593353
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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