A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969748



Internal ID47150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131698500..131708790hg38UCSC Ensembl
chr6:132019640..132029930hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3810291
hg1910291
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140582
Supporting Variants
Samples
Known GenesCTAGE9, ENPP3, OR2A4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969748
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.171689


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