A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15806279



Internal ID19531679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6881836..6900836hg38UCSC Ensembl
chr12:6991000..7010000hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3819001
hg1919001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4209404
Supporting Variants
Samples
Known GenesDSTNP2, RPL13P5
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)nssv15806279
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00026


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