A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504808



Internal ID281602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105251708..105328654hg38UCSC Ensembl
chr14:105718045..105794991hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3876947
hg1976947
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17700591
Samples
Known GenesBRF1, PACS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504808
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer