A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470215



Internal ID247984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:175357272..175482319hg38UCSC Ensembl
chr4:176278423..176403470hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38125048
hg19125048
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16959426
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470215
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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