A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16922814



Internal ID15966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199584195..199584246hg38UCSC Ensembl
chr2:200448918..200448969hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5556080
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16922814
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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