A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4092018



Internal ID19984374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:65868187..66971667hg38UCSC Ensembl
chr3:65853862..67022091hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg381103481
hg191168230
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15972578
Samples
Known GenesLRIG1, MAGI1, MAGI1-AS1, SLC25A26
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)nsv4092018
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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