A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15791543



Internal ID19863621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:12655397..12920187hg38UCSC Ensembl
chr9:12655397..12920186hg19UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg38264791
hg19264790
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4337597
Supporting Variants
Samples
Known GenesLURAP1L, TYRP1
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv15791543
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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