A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4210173



Internal ID20416535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:6551747..6552329hg38UCSC Ensembl
chr11:6572977..6573559hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38583
hg19583
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15952878
Samples
Known GenesDNHD1
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)nsv4210173
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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