A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890674



Internal ID167963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154286146..154293019hg38UCSC Ensembl
chr1:154258622..154265495hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg386874
hg196874
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5417126
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890674
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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