A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717733



Internal ID141399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:43272484..43272553hg38UCSC Ensembl
chr18:40852449..40852518hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5522683
Supporting Variants
Samples
Known GenesSYT4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717733
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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