A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4213172



Internal ID20072024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110711195..110716195hg38UCSC Ensembl
chr12:111149000..111154000hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg385001
hg195001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv553n166
Supporting Variantsnssv15813526
Samples
Known Genes
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 ID12345678
Accession Number(s)nsv4213172
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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