A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440447



Internal ID218954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:239063382..239084229hg38UCSC Ensembl
chr1:239226682..239247529hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3820848
hg1920848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898048
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440447
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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