A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15930094



Internal ID19655348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124478091..124483012hg38UCSC Ensembl
chr8:125490332..125495253hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg384922
hg194922
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4158228
Supporting Variants
Samples
Known GenesRNF139
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)nssv15930094
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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