A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16906186



Internal ID4920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67301894..67302001hg38UCSC Ensembl
chr1:67767577..67767684hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421674
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16906186
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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