A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17406674



Internal ID22464544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:134549624..134549691hg38UCSC Ensembl
chr3:134268466..134268533hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5895335
Supporting Variants
Samples
Known GenesCEP63
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17406674
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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