A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17042042



Internal ID95728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1298000..1308000hg38UCSC Ensembl
chr11:1319230..1329230hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3810001
hg1910001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143078
Supporting Variants
Samples
Known GenesTOLLIP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17042042
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000477


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