A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4246121



Internal ID20441554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:64984005..64984226hg38UCSC Ensembl
chr15:65276343..65276564hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15825441
Samples
Known GenesSPG21
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)nsv4246121
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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