A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15956863



Internal ID19682117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:82991506..82992487hg38UCSC Ensembl
chr15:83660258..83661239hg19UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38982
hg19982
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4249227
Supporting Variants
Samples
Known GenesC15orf40
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)nssv15956863
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.012259


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