A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506965



Internal ID283696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:38010990..38011043hg38UCSC Ensembl
chr14:38480195..38480248hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696980
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506965
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