A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17011775



Internal ID75517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66803452..66803452hg38UCSC Ensembl
chr8:67715687..67715687hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5534720
Supporting Variants
Samples
Known GenesC8orf44-SGK3, SGK3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17011775
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.14959


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