A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436529



Internal ID215143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:30045532..30047289hg38UCSC Ensembl
chr3:30087023..30088780hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg381758
hg191758
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16931375
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436529
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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