A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15925193



Internal ID19650447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:134663350..134672823hg38UCSC Ensembl
chr7:134348102..134357575hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg389474
hg199474
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4172079
Supporting Variants
Samples
Known GenesBPGM
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)nssv15925193
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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