A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4221756



Internal ID20424801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116726376..116730199hg38UCSC Ensembl
chr12:117164181..117168004hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg383824
hg193824
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15813328
Samples
Known GenesC12orf49
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)nsv4221756
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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