A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500923



Internal ID277843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:59464080..59464590hg38UCSC Ensembl
chr14:59930798..59931308hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38511
hg19511
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695941
Samples
Known GenesGPR135
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500923
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