A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451313



Internal ID229498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:120976299..121640311hg38UCSC Ensembl
chr3:120695146..121359158hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38664013
hg19664013
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16938049
Samples
Known GenesARGFX, FBXO40, HCLS1, POLQ, STXBP5L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451313
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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