A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470522



Internal ID248278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:54791500..54815955hg38UCSC Ensembl
chr5:54087328..54111783hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3824456
hg1924456
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965619
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470522
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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