A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453049



Internal ID231188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224136572..224139663hg38UCSC Ensembl
chr1:224324274..224327365hg19UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg383092
hg193092
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896364
Samples
Known GenesFBXO28
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453049
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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