A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4342947



Internal ID19841089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:116195799..116197054hg38UCSC Ensembl
chr9:118958078..118959333hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg381256
hg191256
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15791659
Samples
Known GenesPAPPA
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 ID12345678
Accession Number(s)nsv4342947
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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