A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17425820



Internal ID22483690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54287874..54287949hg38UCSC Ensembl
chr4:55154041..55154116hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5904774
Supporting Variants
Samples
Known GenesPDGFRA
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17425820
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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