A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437952



Internal ID216527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50126353..50126406hg38UCSC Ensembl
chr3:50163786..50163839hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16933401
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437952
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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