A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470075



Internal ID247846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:133656939..133674231hg38UCSC Ensembl
chr4:134578094..134595386hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3817293
hg1917293
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16955922
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470075
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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