A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4111289



Internal ID19998743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39409428..39425576hg38UCSC Ensembl
chr4:39411048..39427196hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3816149
hg1916149
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15973449
Samples
Known GenesKLB, MIR1273H
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)nsv4111289
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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