A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4240966



Internal ID20438172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:66033064..66044820hg38UCSC Ensembl
chr15:66325402..66337158hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg3811757
hg1911757
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15825491
Samples
Known GenesMEGF11, MIR4311
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)nsv4240966
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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