A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447407



Internal ID225711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126088882..126089048hg38UCSC Ensembl
chr3:125807725..125807891hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16937597
Samples
Known GenesSLC41A3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447407
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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