A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501540



Internal ID278435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:61039820..61050090hg38UCSC Ensembl
chr14:61506538..61516808hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3810271
hg1910271
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695993
Samples
Known GenesSLC38A6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501540
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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