A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16986362



Internal ID58338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:109153990..109154041hg38UCSC Ensembl
chr6:109475193..109475244hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38673
hg19673
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559622
Supporting Variants
Samples
Known GenesCEP57L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16986362
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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