A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430794



Internal ID209589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11665287..11666415hg38UCSC Ensembl
chr1:11725344..11726472hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381129
hg191129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892742
Samples
Known GenesFBXO6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430794
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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