A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15923886



Internal ID19995826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:133320119..133329053hg38UCSC Ensembl
chr7:133004873..133013807hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg388935
hg198935
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4162274
Supporting Variants
Samples
Known GenesEXOC4
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)nssv15923886
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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