A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889867



Internal ID167353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:116005410..116005461hg38UCSC Ensembl
chr1:116548031..116548082hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5555457
Supporting Variants
Samples
Known GenesSLC22A15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889867
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.022205


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