A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505515



Internal ID282286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:56638057..56638113hg38UCSC Ensembl
chr14:57104775..57104831hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696400
Samples
Known GenesTMEM260
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505515
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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