A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4049346



Internal ID20175306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:18274194..18283148hg38UCSC Ensembl
chr1:18600688..18609642hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg388955
hg198955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15850775
Samples
Known GenesIGSF21
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)nsv4049346
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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