A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4111233



Internal ID20345386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3619554..3740751hg38UCSC Ensembl
chr4:3621281..3742478hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38121198
hg19121198
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15973984
Samples
Known GenesLOC100133461
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)nsv4111233
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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