A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889556



Internal ID167131
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 StatusS
Merged Variantsnsv5425010
Supporting Variants
Samples
Known GenesPTPN22
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889556
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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