A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4178127



Internal ID20046748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:129787313..130225163hg38UCSC Ensembl
chr9:132549592..132987442hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38437851
hg19437851
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15985976
Samples
Known GenesC9orf78, FNBP1, GPR107, MIR6855, NCS1, TOR1A, TOR1B, USP20
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 ID12345678
Accession Number(s)nsv4178127
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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