A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454910



Internal ID233004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54235951..54253951hg38UCSC Ensembl
chr4:55102118..55120118hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3818001
hg1918001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16950083
Samples
Known GenesPDGFRA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454910
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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