A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520983



Internal ID297290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6432653..6433131hg38UCSC Ensembl
chr19:6432664..6433142hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17720928
Samples
Known GenesSLC25A41
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520983
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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