A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497338



Internal ID274377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:84433636..84450583hg38UCSC Ensembl
chr14:84899980..84916927hg19UCSC Ensembl
Cytoband14q31.2
Allele length
AssemblyAllele length
hg3816948
hg1916948
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697505
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497338
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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