A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717864



Internal ID141530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45815434..45846165hg38UCSC Ensembl
chr18:43395399..43426130hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3830732
hg1930732
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5519360
Supporting Variants
Samples
Known GenesSIGLEC15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717864
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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