A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502670



Internal ID279529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:35592701..35593087hg38UCSC Ensembl
chr14:36061907..36062293hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg38387
hg19387
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696494
Samples
Known GenesRALGAPA1, RALGAPA1P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502670
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