A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697575



Internal ID121241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:85536753..85536804hg38UCSC Ensembl
chr14:86003097..86003148hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5416395
Supporting Variants
Samples
Known GenesFLRT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697575
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001249


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