A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4254963



Internal ID20447552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45054500..45057055hg38UCSC Ensembl
chr17:43131868..43134423hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg382556
hg192556
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15959541
Samples
Known GenesDCAKD
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)nsv4254963
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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