A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523019



Internal ID299269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68286848..68286936hg38UCSC Ensembl
chr16:68320751..68320839hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707559
Samples
Known GenesSLC7A6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523019
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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