A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717422



Internal ID141088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:37522904..37536786hg38UCSC Ensembl
chr18:35102867..35116749hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3813883
hg1913883
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5531221
Supporting Variants
Samples
Known GenesCELF4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717422
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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