A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478231



Internal ID255794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:124120862..124121365hg38UCSC Ensembl
chr9:126883141..126883644hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38504
hg19504
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17028585
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478231
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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