A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4199880



Internal ID20409088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50418197..50423595hg38UCSC Ensembl
chr12:50811980..50817378hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg385399
hg195399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15949810
Samples
Known GenesLARP4
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)nsv4199880
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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