A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16986439



Internal ID58392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:112074318..112074318hg38UCSC Ensembl
chr6:112395521..112395521hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5412404
Supporting Variants
Samples
Known GenesTUBE1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16986439
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.030948


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