A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445978



Internal ID224313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:14064548..14064806hg38UCSC Ensembl
chr3:14106048..14106306hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16930479
Samples
Known GenesTPRXL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445978
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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