A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717117



Internal ID140783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:32055703..32055866hg38UCSC Ensembl
chr18:29635666..29635829hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38164
hg19164
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5523224
Supporting Variants
Samples
Known GenesRNF125
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717117
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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