A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4520891



Internal ID19904321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52032834..52079834hg38UCSC Ensembl
chr4:52899000..52946000hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3847001
hg1947001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15974131
Samples
Known GenesSGCB, SPATA18
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)nsv4520891
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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