A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16898306



Internal ID173015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229247885..229247944hg38UCSC Ensembl
chr1:229383632..229383691hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5448582
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16898306
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.014839


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