A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4153780



Internal ID20375820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:4492615..4526076hg38UCSC Ensembl
chr9:4492615..4526076hg19UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg3833462
hg1933462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15941018
Samples
Known GenesSLC1A1
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)nsv4153780
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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