A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695054



Internal ID118720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:42079142..42301830hg38UCSC Ensembl
chr14:42548345..42771033hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38222689
hg19222689
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504997
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695054
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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