A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4244754



Internal ID20093974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28341679..28598779hg38UCSC Ensembl
chr16:28353000..28610100hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38257101
hg19257101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15829618
Samples
Known GenesAPOBR, CCDC101, CLN3, EIF3C, EIF3CL, IL27, MIR6862-1, MIR6862-2, NPIPB6, NUPR1, SULT1A2
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)nsv4244754
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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