A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15933037



Internal ID20004977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:35661373..35662982hg38UCSC Ensembl
chr9:35661370..35662979hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg381610
hg191610
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4191250
Supporting Variants
Samples
Known GenesARHGEF39, CCDC107
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 ID32461652
Accession Number(s)nssv15933037
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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