A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494569



Internal ID271708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62950117..63024043hg38UCSC Ensembl
chr11:62717589..62791515hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg3873927
hg1973927
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17047893
Samples
Known GenesSLC22A6, SLC22A8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494569
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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