A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4174994



Internal ID20391219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:28988647..29035193hg38UCSC Ensembl
chr9:28988645..29035191hg19UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg3846547
hg1946547
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15986018
Samples
Known GenesLINGO2
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)nsv4174994
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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