A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523627



Internal ID299853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24897677..24897735hg38UCSC Ensembl
chr16:24908998..24909056hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17706585
Samples
Known GenesSLC5A11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523627
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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