A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4206620



Internal ID20413965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23980100..23989974hg38UCSC Ensembl
chr12:24133034..24142908hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg389875
hg199875
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15809518
Samples
Known GenesSOX5
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)nsv4206620
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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