A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696339



Internal ID120005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55293662..55297094hg38UCSC Ensembl
chr14:55760380..55763812hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg383433
hg193433
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5512824
Supporting Variants
Samples
Known GenesFBXO34
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696339
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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