A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246087



Internal ID22050697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66800398..66800398hg38UCSC Ensembl
chr8:67712633..67712633hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17839696
Samples
Known GenesC8orf44-SGK3, SGK3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246087
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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