A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716545



Internal ID140211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:21645691..21655699hg38UCSC Ensembl
chr18:19225652..19235660hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3810009
hg1910009
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533864
Supporting Variants
Samples
Known GenesABHD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716545
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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