A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440854



Internal ID219350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246832423..246847202hg38UCSC Ensembl
chr1:246995725..247010504hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3814780
hg1914780
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897821
Samples
Known GenesAHCTF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440854
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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