A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4210412



Internal ID20070034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46451248..46806054hg38UCSC Ensembl
chr11:46472798..46827604hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38354807
hg19354807
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15950340
Samples
Known GenesAMBRA1, ARHGAP1, ATG13, CKAP5, F2, HARBI1, MIR3160-1, MIR3160-2, MIR5582, SNORD67, ZNF408
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)nsv4210412
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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