A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4217946



Internal ID20422103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:84468272..84624054hg38UCSC Ensembl
chr13:85042407..85198189hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38155783
hg19155783
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15951303
Samples
Known GenesLINC00333
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)nsv4217946
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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