A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5951544



Internal ID22726904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42256827..42305872hg38UCSC Ensembl
chr21:43676937..43725982hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3849046
hg1949046
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17391560
Samples
Known GenesABCG1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5951544
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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