A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16986357



Internal ID58336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:109100627..109106684hg38UCSC Ensembl
chr6:109421830..109427887hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg386058
hg196058
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5466486
Supporting Variants
Samples
Known GenesCEP57L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16986357
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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