A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4218262



Internal ID20422336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31151648..31314087hg38UCSC Ensembl
chr13:31725785..31888224hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38162440
hg19162440
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15953880
Samples
Known GenesB3GALTL, HSPH1
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)nsv4218262
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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