A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15817103



Internal ID19889189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:92264588..92303505hg38UCSC Ensembl
chr13:92916841..92955758hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3838918
hg1938918
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4215175
Supporting Variants
Samples
Known GenesGPC5
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)nssv15817103
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000094


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