A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246085



Internal ID22050695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66682332..66682332hg38UCSC Ensembl
chr8:67594567..67594567hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17839694
Samples
Known GenesC8orf44-SGK3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246085
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer