A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4337993



Internal ID20186796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2505498..2781064hg38UCSC Ensembl
chr4:2507225..2782791hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38275567
hg19275567
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15790109
Samples
Known GenesFAM193A, RNF4, TNIP2
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)nsv4337993
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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