A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15938940



Internal ID19664194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:113245327..113249645hg38UCSC Ensembl
chr9:116007607..116011925hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg384319
hg194319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4189306
Supporting Variants
Samples
Known GenesSLC31A1
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)nssv15938940
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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