A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17412216



Internal ID22470086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177506577..177506923hg38UCSC Ensembl
chr5:176933578..176933924hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5894379
Supporting Variants
Samples
Known GenesDOK3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17412216
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003


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