A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17047322



Internal ID99392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46180818..46311485hg38UCSC Ensembl
chr11:46202369..46333036hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38130668
hg19130668
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501156
Supporting Variants
Samples
Known GenesCREB3L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17047322
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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