A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5466504



Internal ID244339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150142561..150142678hg38UCSC Ensembl
chr5:149522124..149522241hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974759
Samples
Known GenesPDGFRB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5466504
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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