A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510903



Internal ID287511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:35592409..35592527hg38UCSC Ensembl
chr14:36061615..36061733hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696492
Samples
Known GenesRALGAPA1, RALGAPA1P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510903
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