A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4125982



Internal ID20355786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:10906689..10907929hg38UCSC Ensembl
chr6:10906922..10908162hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg381241
hg191241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15906525
Samples
Known GenesSYCP2L
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)nsv4125982
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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