A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15907330



Internal ID19979270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:167391493..167407647hg38UCSC Ensembl
chr5:166818498..166834652hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3816155
hg1916155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4132088
Supporting Variants
Samples
Known GenesTENM2
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 ID32461652
Accession Number(s)nssv15907330
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000047


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