A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4220912



Internal ID20424203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46575397..46589316hg38UCSC Ensembl
chr13:47149532..47163451hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3813920
hg1913920
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15816012
Samples
Known GenesLRCH1
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)nsv4220912
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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