A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246688



Internal ID22051298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132865375..132865375hg38UCSC Ensembl
chr8:133877620..133877620hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17840254
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246688
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