A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514911



Internal ID291399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:51022583..51482651hg38UCSC Ensembl
chr15:51314780..51774848hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38460069
hg19460069
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17703132
Samples
Known GenesCYP19A1, DMXL2, GLDN, MIR4713, TNFAIP8L3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514911
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