A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431437



Internal ID210213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108217637..108554718hg38UCSC Ensembl
chr1:108760259..109097340hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38337082
hg19337082
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16907836
Samples
Known GenesNBPF4, NBPF6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431437
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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