A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502466



Internal ID279332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40800473..40800537hg38UCSC Ensembl
chr13:41374609..41374673hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687110
Samples
Known GenesSLC25A15, TPTE2P5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502466
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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