A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4138393



Internal ID20364664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:40408626..40413359hg38UCSC Ensembl
chr6:40376365..40381098hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg384734
hg194734
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15910602
Samples
Known GenesLRFN2
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)nsv4138393
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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