A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503254



Internal ID280093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:96090028..96112653hg38UCSC Ensembl
chr14:96556365..96578990hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3822626
hg1922626
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698674
Samples
Known GenesC14orf132
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503254
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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