A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16950083



Internal ID34076
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 StatusS
Merged Variantsnsv5454910
Supporting Variants
Samples
Known GenesPDGFRA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16950083
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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