A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5955983



Internal ID22731176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66803433..66803433hg38UCSC Ensembl
chr8:67715668..67715668hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17437950
Samples
Known GenesC8orf44-SGK3, SGK3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5955983
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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