A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5402219



Internal ID181590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:18147120..18147171hg38UCSC Ensembl
chr6:18147351..18147402hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981159
Samples
Known GenesTPMT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5402219
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