A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458930



Internal ID236950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:153204880..153216885hg38UCSC Ensembl
chr5:152584440..152596445hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3812006
hg1912006
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975694
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458930
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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