A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896221



Internal ID171627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:214647404..214647445hg38UCSC Ensembl
chr1:214820747..214820788hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5561779
Supporting Variants
Samples
Known GenesCENPF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896221
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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