A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15937662



Internal ID19662916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:110675176..110676725hg38UCSC Ensembl
chr9:113437456..113439005hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg381550
hg191550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4172480
Supporting Variants
Samples
Known GenesMUSK
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)nssv15937662
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00295


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