A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4193726



Internal ID20057934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:17347925..17527034hg38UCSC Ensembl
chr11:17369472..17548581hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38179110
hg19179110
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15948309
Samples
Known GenesABCC8, KCNJ11, NCR3LG1, USH1C
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)nsv4193726
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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