A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17039710



Internal ID94195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:112314099..112314099hg38UCSC Ensembl
chr10:114073857..114073857hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5394346
Supporting Variants
Samples
Known GenesGUCY2GP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17039710
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.51577


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