A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471095



Internal ID248839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117641981..117689375hg38UCSC Ensembl
chr5:116977676..117025070hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3847395
hg1947395
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16972788
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471095
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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