A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414169



Internal ID193454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16238696..16267377hg38UCSC Ensembl
chr1:16565191..16593872hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3828682
hg1928682
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896526
Samples
Known GenesFBXO42
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414169
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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