A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17409943



Internal ID22467813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172141314..172150217hg38UCSC Ensembl
chr5:171568318..171577221hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg388904
hg198904
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5895426
Supporting Variants
Samples
Known GenesSTK10
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17409943
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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