A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15925295



Internal ID19997235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:143816807..144182407hg38UCSC Ensembl
chr7:143513900..143879500hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38365601
hg19365601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4159829
Supporting Variants
Samples
Known GenesFAM115A, LOC154761, OR2A12, OR2A14, OR2A2, OR2A25, OR2A5, OR2F1, OR2F2, OR6B1
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)nssv15925295
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000139


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