A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497246



Internal ID274292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:107946134..107946558hg38UCSC Ensembl
chr11:107816860..107817284hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38425
hg19425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17049090
Samples
Known GenesRAB39A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497246
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