A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4318476



Internal ID19838145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:21598063..21598852hg38UCSC Ensembl
chr6:21598294..21599083hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38790
hg19790
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16090180
Samples
Known GenesSOX4
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 ID12345678
Accession Number(s)nsv4318476
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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