A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5487399



Internal ID264737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:43211855..43212506hg38UCSC Ensembl
chr10:43707303..43707954hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38652
hg19652
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17032742
Samples
Known GenesRASGEF1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5487399
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer