A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425010



Internal ID203984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:113852295..113853484hg38UCSC Ensembl
chr1:114394917..114396106hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381190
hg191190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889556
Samples
Known GenesPTPN22
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425010
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