A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469058



Internal ID246851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:156957012..156959357hg38UCSC Ensembl
chr4:157878164..157880509hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg382346
hg192346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16957684
Samples
Known GenesPDGFC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469058
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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