A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4340758



Internal ID19840679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:27549440..27550168hg38UCSC Ensembl
chr9:27549438..27550166hg19UCSC Ensembl
Cytoband9p21.2
Allele length
AssemblyAllele length
hg38729
hg19729
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15791572
Samples
Known GenesC9orf72
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)nsv4340758
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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