A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687121



Internal ID110787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40912155..40912206hg38UCSC Ensembl
chr13:41486291..41486342hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5426986
Supporting Variants
Samples
Known GenesSUGT1P3, TPTE2P5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687121
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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