A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445449



Internal ID223796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:13987889..13992442hg38UCSC Ensembl
chr3:14029389..14033942hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg384554
hg194554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv342n206
Supporting Variantsnssv16929550
Samples
Known GenesTPRXL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445449
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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