A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15799333



Internal ID19871419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:131249639..131258500hg38UCSC Ensembl
chr10:133047902..133056763hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg388862
hg198862
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4197463
Supporting Variants
Samples
Known GenesTCERG1L
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)nssv15799333
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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