A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16990592



Internal ID61145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166449804..166450772hg38UCSC Ensembl
chr6:166863292..166864260hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38969
hg19969
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5464689
Supporting Variants
Samples
Known GenesRPS6KA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16990592
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.049188


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