A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454710



Internal ID232807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:67002119..67002256hg38UCSC Ensembl
chr5:66297947..66298084hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16966151
Samples
Known GenesMAST4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454710
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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