A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4109537



Internal ID20344132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53329162..53340430hg38UCSC Ensembl
chr4:54195329..54206597hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3811269
hg1911269
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15974151
Samples
Known GenesSCFD2
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)nsv4109537
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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