A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695453



Internal ID119119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:28894303..28894496hg38UCSC Ensembl
chr14:29363509..29363702hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494775
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695453
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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