A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889558



Internal ID167132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:113868916..113868927hg38UCSC Ensembl
chr1:114411538..114411549hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5413284
Supporting Variants
Samples
Known GenesAP4B1-AS1, PTPN22
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889558
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.006088


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