A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889400



Internal ID167021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:118447983..118452341hg38UCSC Ensembl
chr1:118990606..118994964hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg384359
hg194359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425458
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889400
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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