A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699549



Internal ID123215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103760109..103760160hg38UCSC Ensembl
chr14:104226446..104226497hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5414560
Supporting Variants
Samples
Known GenesPPP1R13B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699549
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00562


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