A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473900



Internal ID251581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69230853..69231301hg38UCSC Ensembl
chr5:68526680..68527128hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38449
hg19449
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16967394
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473900
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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