A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4158012



Internal ID20032229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66708346..66716452hg38UCSC Ensembl
chr8:67620581..67628687hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg388107
hg198107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15926494
Samples
Known GenesC8orf44-SGK3, SGK3
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4158012
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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