A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4190159



Internal ID20402044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:11792279..12099917hg38UCSC Ensembl
chr9:11792279..12099917hg19UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg38307639
hg19307639
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2708n166
Supporting Variantsnssv15939449
Samples
Known Genes
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)nsv4190159
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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