A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469428



Internal ID247214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:8460278..8460333hg38UCSC Ensembl
chr5:8460391..8460446hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16963654
Samples
Known GenesMIR4458HG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469428
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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