A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504244



Internal ID281052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:34077626..34088561hg38UCSC Ensembl
chr14:34546832..34557767hg19UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg3810936
hg1910936
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696795
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504244
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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