A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4213688



Internal ID20072397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:48646756..49611813hg38UCSC Ensembl
chr14:49115959..50078531hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38965058
hg19962573
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15952694
Samples
Known GenesLRR1, RPS29
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)nsv4213688
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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