A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15791462



Internal ID19516853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109970363..109970714hg38UCSC Ensembl
chr8:110982592..110982943hg19UCSC Ensembl
Cytoband8q23.2
Allele length
AssemblyAllele length
hg38352
hg19352
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4341151
Supporting Variants
Samples
Known GenesKCNV1
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15791462
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000092


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