A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4112720



Internal ID19999789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:38386036..38519666hg38UCSC Ensembl
chr5:38386138..38519768hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38133631
hg19133631
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15974962
Samples
Known GenesEGFLAM, EGFLAM-AS2, LIFR
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)nsv4112720
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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