A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506696



Internal ID283436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:28776938..28777543hg38UCSC Ensembl
chr14:29246144..29246749hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38606
hg19606
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695445
Samples
Known GenesC14orf23
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506696
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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