A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696300



Internal ID119966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54779008..54779058hg38UCSC Ensembl
chr14:55245726..55245776hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5509173
Supporting Variants
Samples
Known GenesSAMD4A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696300
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002498


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