A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417475



Internal ID196671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28574119..28575890hg38UCSC Ensembl
chr1:28900631..28902402hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg381772
hg191772
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16903484
Samples
Known GenesTRNAU1AP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417475
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