A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464475



Internal ID242352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:109329041..109329130hg38UCSC Ensembl
chr5:108664742..108664831hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16971877
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464475
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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