A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468038



Internal ID245843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119356358..119367327hg38UCSC Ensembl
chr5:118692053..118703022hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3810970
hg1910970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973859
Samples
Known GenesTNFAIP8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468038
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