A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4217249



Internal ID20421603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:33835036..33856101hg38UCSC Ensembl
chr13:34409173..34430238hg19UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg3821066
hg1921066
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv608n166
Supporting Variantsnssv15813891
Samples
Known GenesRFC3
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)nsv4217249
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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