A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4532077



Internal ID20262196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12414557..12427554hg38UCSC Ensembl
chr18:12414556..12427553hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3812998
hg1912998
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15959393
Samples
Known GenesSLMO1
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)nsv4532077
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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