A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16907058



Internal ID5490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100473048..100473048hg38UCSC Ensembl
chr1:100938604..100938604hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5398830
Supporting Variants
Samples
Known GenesCDC14A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16907058
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.058657


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