A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497606



Internal ID274635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:68856029..68860490hg38UCSC Ensembl
chr14:69322746..69327207hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg384462
hg194462
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697811
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497606
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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