A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15838540



Internal ID19563940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:10667026..10674136hg38UCSC Ensembl
chr18:10667023..10674133hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg387111
hg197111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4257816
Supporting Variants
Samples
Known GenesPIEZO2
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)nssv15838540
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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