A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695853



Internal ID119519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:33789049..33812722hg38UCSC Ensembl
chr14:34258255..34281928hg19UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg3823674
hg1923674
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505473
Supporting Variants
Samples
Known GenesNPAS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695853
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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