A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4284155



Internal ID20118229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:33382745..33390195hg38UCSC Ensembl
chr20:31970551..31978001hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg387451
hg197451
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15966614
Samples
Known GenesCDK5RAP1
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)nsv4284155
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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