A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696994



Internal ID120660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:38291028..38291106hg38UCSC Ensembl
chr14:38760232..38760310hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495727
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696994
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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