A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15916460



Internal ID19988400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7690245..7704002hg38UCSC Ensembl
chr7:7729876..7743633hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3813758
hg1913758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4147997
Supporting Variants
Samples
Known GenesRPA3, RPA3-AS1
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)nssv15916460
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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