A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419566



Internal ID198695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108436000..108554000hg38UCSC Ensembl
chr1:108978622..109096622hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38118001
hg19118001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16907858
Samples
Known GenesNBPF6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419566
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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