A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4189818



Internal ID20401801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:116691376..116740735hg38UCSC Ensembl
chr9:119453655..119503014hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg3849360
hg1949360
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15938252
Samples
Known GenesASTN2, TRIM32
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)nsv4189818
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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