A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17428645



Internal ID22486515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:170241753..170241753hg38UCSC Ensembl
chr3:169959541..169959541hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5954440
Supporting Variants
Samples
Known GenesPRKCI
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17428645
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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