A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16950085



Internal ID34077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54288560..54288611hg38UCSC Ensembl
chr4:55154727..55154778hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5411006
Supporting Variants
Samples
Known GenesPDGFRA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16950085
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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