A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4117163



Internal ID20349605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56948840..57151723hg38UCSC Ensembl
chr5:56244667..56447550hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38202884
hg19202884
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15976354
Samples
Known GenesMIER3
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)nsv4117163
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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