A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4336422



Internal ID20186489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149593927..149608589hg38UCSC Ensembl
chr5:148973490..148988152hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3814663
hg1914663
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15790659
Samples
Known GenesARHGEF37
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4336422
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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