A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4258272



Internal ID20449885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13906405..13911780hg38UCSC Ensembl
chr18:13906404..13911779hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg385376
hg195376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15838197
Samples
Known GenesMC2R
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)nsv4258272
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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