A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510372



Internal ID286993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:4082000..4096000hg38UCSC Ensembl
chr11:4103230..4117230hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3814001
hg1914001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17041580
Samples
Known GenesRRM1, STIM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510372
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