A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16988085



Internal ID59484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:118146614..118146668hg38UCSC Ensembl
chr6:118467777..118467831hg19UCSC Ensembl
Cytoband6q22.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5467140
Supporting Variants
Samples
Known GenesSLC35F1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16988085
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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