A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550045



Internal ID323642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:71236114..71236114hg38UCSC Ensembl
chr14:71702831..71702831hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696469
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550045
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