A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16985479



Internal ID57729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:93890379..93890517hg38UCSC Ensembl
chr6:94600097..94600235hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5458206
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16985479
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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