A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418683



Internal ID197845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:166854955..166855019hg38UCSC Ensembl
chr1:166824192..166824256hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891584
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418683
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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