A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17042121



Internal ID95786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2898000..2908000hg38UCSC Ensembl
chr11:2919230..2929230hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3810001
hg1910001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143777
Supporting Variants
Samples
Known GenesSLC22A18, SLC22A18AS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17042121
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001952


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