A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4148475



Internal ID20025303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:83241153..83251411hg38UCSC Ensembl
chr6:83950872..83961130hg19UCSC Ensembl
Cytoband6q14.2
Allele length
AssemblyAllele length
hg3810259
hg1910259
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15978132
Samples
Known GenesME1
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)nsv4148475
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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