A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178255



Internal ID20745295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47926701..47930600hg38UCSC Ensembl
chr18:45453072..45456971hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg383900
hg193900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6529270
Supporting Variants
Samples
Known GenesSMAD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178255
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00054


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