A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15785403



Internal ID19857405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:42346919..42420119hg38UCSC Ensembl
chr9:44551000..44624200hg19UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3873201
hg1973201
Variant TypeOTHER copy number variation
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4051603
Supporting Variants
Samples
Known Genes
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)nssv15785403
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.012077


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