A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451591



Internal ID229769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:13986903..13991472hg38UCSC Ensembl
chr3:14028403..14032972hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg384570
hg194570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv342n206
Supporting Variantsnssv16929549
Samples
Known GenesTPRXL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451591
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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