A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495256



Internal ID272375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:57764115..57766692hg38UCSC Ensembl
chr14:58230833..58233410hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg382578
hg192578
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17694922
Samples
Known GenesSLC35F4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495256
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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